Found: 33
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Activating and inactivating mutations in the human GNAS1 gene.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 183, doi. 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L
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Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
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- Human Mutation, 2000, v. 16, n. 3, p. 190, doi. 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I
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Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene ( F9) in Latin Americans.
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- Human Mutation, 2000, v. 16, n. 3, p. 203, doi. 10.1002/1098-1004(200009)16:3<203::AID-HUMU3>3.0.CO;2-1
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A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.
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- Human Mutation, 2000, v. 16, n. 3, p. 211, doi. 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y
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Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome.
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- Human Mutation, 2000, v. 16, n. 3, p. 224, doi. 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P
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Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia.
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- Human Mutation, 2000, v. 16, n. 3, p. 232, doi. 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L
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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
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- Human Mutation, 2000, v. 16, n. 3, p. 247, doi. 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A
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Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
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- Human Mutation, 2000, v. 16, n. 3, p. 253, doi. 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8
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Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G.
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- Human Mutation, 2000, v. 16, n. 3, p. 264, doi. 10.1002/1098-1004(200009)16:3<264::AID-HUMU9>3.0.CO;2-1
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8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada.
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- Human Mutation, 2000, v. 16, n. 3, p. 265, doi. 10.1002/1098-1004(200009)16:3<265::AID-HUMU10>3.0.CO;2-H
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Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia.
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- Human Mutation, 2000, v. 16, n. 3, p. 269, doi. 10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2
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Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria.
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- Human Mutation, 2000, v. 16, n. 3, p. 269, doi. 10.1002/1098-1004(200009)16:3<269::AID-HUMU12>3.0.CO;2-#
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A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect.
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- Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU14>3.0.CO;2-J
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Novel mutations in the myocilin gene in Japanese glaucoma patients.
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- Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M
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Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations.
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- Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D
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MEFV mutations in Behçet's disease.
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- Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A
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BRCA1 mutation analysis in breast/ovarian cancer families from Greece.
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- Human Mutation, 2000, v. 16, n. 3, p. 272, doi. 10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4
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Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY).
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- Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU18>3.0.CO;2-Z
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Sequence variation within the RPGR gene: Evidence for a founder complex allele.
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- Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W
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NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
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- Human Mutation, 2000, v. 16, n. 3, p. 274, doi. 10.1002/1098-1004(200009)16:3<274::AID-HUMU21>3.0.CO;2-F
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Two distinct alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations.
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- Human Mutation, 2000, v. 16, n. 3, p. 274, doi. 10.1002/1098-1004(200009)16:3<274::AID-HUMU20>3.0.CO;2-I
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A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
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- Human Mutation, 2000, v. 16, n. 3, p. 275, doi. 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9
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An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese.
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- Human Mutation, 2000, v. 16, n. 3, p. 275, doi. 10.1002/1098-1004(200009)16:3<275::AID-HUMU23>3.0.CO;2-6
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A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V
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Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y
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A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU26>3.0.CO;2-S
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CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU27>3.0.CO;2-P
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A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.
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- Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU28>3.0.CO;2-J
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Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.
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- Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU30>3.0.CO;2-5
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A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
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- Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU29>3.0.CO;2-G
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Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene.
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- Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU32>3.0.CO;2-X
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A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
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- Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#
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Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association.
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- Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU33>3.0.CO;2-U
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