Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 1
Results: 25
WRN mutations in Werner Syndrome.
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- Human Mutation, 1999, v. 14, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1999)14:1<84::AID-HUMU11>3.0.CO;2-4
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Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
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- Human Mutation, 1999, v. 14, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1999)14:1<30::AID-HUMU4>3.0.CO;2-X
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No linkage of P187S polymorphism in NAD(P)H: Quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population.
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- Human Mutation, 1999, v. 14, n. 1, p. 67, doi. 10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5
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Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis.
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- Human Mutation, 1999, v. 14, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU22>3.0.CO;2-8
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Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations.
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- Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H
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A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease.
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- Human Mutation, 1999, v. 14, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU19>3.0.CO;2-S
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Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
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- Human Mutation, 1999, v. 14, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO;2-#
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Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
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- Human Mutation, 1999, v. 14, n. 1, p. 54, doi. 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E
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Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis.
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- Human Mutation, 1999, v. 14, n. 1, p. 80, doi. 10.1002/(SICI)1098-1004(1999)14:1<80::AID-HUMU10>3.0.CO;2-J
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Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.
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- Human Mutation, 1999, v. 14, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B
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Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations.
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- Human Mutation, 1999, v. 14, n. 1, p. 87, doi. 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N
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A novel intragenetic PVUII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene ( CHRNA4).
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- Human Mutation, 1999, v. 14, n. 1, p. 93, doi. 10.1002/(SICI)1098-1004(1999)14:1<93::AID-HUMU25>3.0.CO;2-U
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Identification of novel mutations in the PCCB gene in European propionic acidemia patients.
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- Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5
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A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
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- Human Mutation, 1999, v. 14, n. 1, p. 9, doi. 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6
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Identification of a common PEX1 mutation in Zellweger syndrome.
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- Human Mutation, 1999, v. 14, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J
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A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia.
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- Human Mutation, 1999, v. 14, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1999)14:1<90::AID-HUMU20>3.0.CO;2-H
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Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia.
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- Human Mutation, 1999, v. 14, n. 1, p. 87, doi. 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q
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Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site.
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- Human Mutation, 1999, v. 14, n. 1, p. 92, doi. 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU24>3.0.CO;2-#
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Spectrum of CFTR mutations in the middle north of Spain and identification of a novel mutation (1341G→A).
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- Human Mutation, 1999, v. 14, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU17>3.0.CO;2-8
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IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines.
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- Human Mutation, 1999, v. 14, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1999)14:1<1::AID-HUMU1>3.0.CO;2-H
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C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population.
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- Human Mutation, 1999, v. 14, n. 1, p. 40, doi. 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R
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A methylation PCR approach for detection of fragile X syndrome.
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- Human Mutation, 1999, v. 14, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1999)14:1<71::AID-HUMU9>3.0.CO;2-5
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Corrigenda.
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- Human Mutation, 1999, v. 14, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1999)14:1<86::AID-HUMU12>3.0.CO;2-W
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Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia.
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- Human Mutation, 1999, v. 14, n. 1, p. 92, doi. 10.1002/(SICI)1098-1004(1999)14:1<92::AID-HUMU23>3.0.CO;2-2
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Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients.
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- Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E
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