Works matching IS 10597794 AND DT 1998 AND VI 11
Results: 205
Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification.
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- Human Mutation, 1998, v. 11, n. 6, p. 481, doi. 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU13>3.0.CO;2-N
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A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis.
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- Human Mutation, 1998, v. 11, n. 6, p. 483, doi. 10.1002/(SICI)1098-1004(1998)11:6<483::AID-HUMU17>3.0.CO;2-5
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Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
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- Human Mutation, 1998, v. 11, n. 6, p. 443, doi. 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S
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Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.
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- Human Mutation, 1998, v. 11, n. 6, p. 470, doi. 10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A
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A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome.
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- Human Mutation, 1998, v. 11, n. 6, p. 481, doi. 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q
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Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer.
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- Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU16>3.0.CO;2-B
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W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute G<sub>M2</sub> gangliosidosis.
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- Human Mutation, 1998, v. 11, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z
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Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
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- Human Mutation, 1998, v. 11, n. 6, p. 461, doi. 10.1002/(SICI)1098-1004(1998)11:6<461::AID-HUMU7>3.0.CO;2-F
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Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations.
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- Human Mutation, 1998, v. 11, n. 5, p. 354, doi. 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W
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The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II.
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- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I
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Chemical cleavage of mismatch: A new look at an established method.
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- Human Mutation, 1998, v. 11, n. 5, p. 345, doi. 10.1002/(SICI)1098-1004(1998)11:5<345::AID-HUMU1>3.0.CO;2-0
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Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations.
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- Human Mutation, 1998, v. 11, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1998)11:6<424::AID-HUMU2>3.0.CO;2-2
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A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping.
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- Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W
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Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria.
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- Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E
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Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF).
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- Human Mutation, 1998, v. 11, n. 6, p. 456, doi. 10.1002/(SICI)1098-1004(1998)11:6<456::AID-HUMU6>3.0.CO;2-G
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Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
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- Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU10>3.0.CO;2-Z
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Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del.
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- Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO;2-H
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Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease.
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- Human Mutation, 1998, v. 11, n. 6, p. 483, doi. 10.1002/(SICI)1098-1004(1998)11:6<483::AID-HUMU18>3.0.CO;2-2
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Molecular basis of type III hyperlipoproteinemia in Germany.
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- Human Mutation, 1998, v. 11, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5
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A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.
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- Human Mutation, 1998, v. 11, n. 6, p. 450, doi. 10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P
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The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer.
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- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU18>3.0.CO;2-C
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Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene.
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- Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4
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Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging.
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- Human Mutation, 1998, v. 11, n. 5, p. 360, doi. 10.1002/(SICI)1098-1004(1998)11:5<360::AID-HUMU3>3.0.CO;2-U
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Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.
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- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F
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Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
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- Human Mutation, 1998, v. 11, n. 5, p. 395, doi. 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4
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A novel mutation (V191G) in a German-British type 1 Gaucher disease patient.
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- Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU13>3.0.CO;2-X
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Analysis of CpG C-to-T mutations in neurofibromatosis type 1.
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- Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2
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Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
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- Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
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Identification of cystic fibrosis mutations in the United Arab Emirates.
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- Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O
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Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus.
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- Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU12>3.0.CO;2-#
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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
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- Human Mutation, 1998, v. 11, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8
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Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis.
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- Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q
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Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
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- Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8
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Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.
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- Human Mutation, 1998, v. 11, n. 5, p. 372, doi. 10.1002/(SICI)1098-1004(1998)11:5<372::AID-HUMU4>3.0.CO;2-M
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α-thalassaemia due to a single codon deletion in the α-1-globin gene. Computational structural analysis of the new α-chain variant.
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- Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU14>3.0.CO;2-R
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Rapid, efficient method for multiplex amplification from filter paper.
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- Human Mutation, 1998, v. 11, n. 5, p. 404, doi. 10.1002/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S
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Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.
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- Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.0.CO;2-D
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Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations.
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- Human Mutation, 1998, v. 11, n. 3, p. 252, doi. 10.1002/(SICI)1098-1004(1998)11:3<252::AID-HUMU11>3.0.CO;2-Y
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Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages.
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- Human Mutation, 1998, v. 11, n. 3, p. 191, doi. 10.1002/(SICI)1098-1004(1998)11:3<191::AID-HUMU2>3.0.CO;2-L
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Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
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- Human Mutation, 1998, v. 11, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1998)11:3<216::AID-HUMU6>3.0.CO;2-F
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Seven novel mutations in mut methylmalonic aciduria.
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- Human Mutation, 1998, v. 11, n. 4, p. 270, doi. 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T
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Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.
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- Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6
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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
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- Human Mutation, 1998, v. 11, n. 4, p. 321, doi. 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A
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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients.
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- Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU14>3.0.CO;2-Y
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Independent occurrence of the novel Arg<sup>2163</sup> to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.
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- Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X
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Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1<sub>Burin</sub>) in four kindreds from Newfoundland.
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- Human Mutation, 1998, v. 11, n. 4, p. 264, doi. 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V
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Detection of four novel mutations in the iduronate-2-sulfatase gene.
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- Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G
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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
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- Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
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A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
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- Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#
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Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.
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- Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0
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