Found: 34
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The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation.
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- Human Mutation, 2000, v. 16, n. 1, p. 31, doi. 10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO;2-I
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A novel missense mutation (L198R) in the Friedreich's ataxia gene.
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- Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E
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PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
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- Human Mutation, 2000, v. 16, n. 1, p. 1, doi. 10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J
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Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
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- Human Mutation, 2000, v. 16, n. 1, p. 54, doi. 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C
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Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa; Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw, and Michele Ramsay; (Article was originally published in Human Mutation 15:166-172, 2000)
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- Human Mutation, 2000, v. 16, n. 1, p. 87, doi. 10.1002/1098-1004(200007)16:1<87::AID-HUMU14>3.0.CO;2-P
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A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.
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- Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T
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Identification of PATCHED mutations in medulloblastomas by direct sequencing.
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- Human Mutation, 2000, v. 16, n. 1, p. 89, doi. 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7
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Distribution of Q188R and N314D mutations in the Hungarian galactosemic population.
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- Human Mutation, 2000, v. 16, n. 1, p. 91, doi. 10.1002/1098-1004(200007)16:1<91::AID-HUMU21>3.0.CO;2-D
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Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.
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- Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V
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Genetic heterogeneity in Peutz-Jeghers syndrome.
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- Human Mutation, 2000, v. 16, n. 1, p. 23, doi. 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M
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3′ polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.
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- Human Mutation, 2000, v. 16, n. 1, p. 49, doi. 10.1002/1098-1004(200007)16:1<49::AID-HUMU9>3.0.CO;2-Z
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Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.
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- Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J
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A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
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- Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q
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Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.
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- Human Mutation, 2000, v. 16, n. 1, p. 89, doi. 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A
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Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
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- Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU30>3.0.CO;2-3
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Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.
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- Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0
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Rapid and comprehensive determination of cytochrome P450 CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction.
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- Human Mutation, 2000, v. 16, n. 1, p. 77, doi. 10.1002/1098-1004(200007)16:1<77::AID-HUMU13>3.0.CO;2-T
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Enzymatic mutation detection (EMD™) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
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- Human Mutation, 2000, v. 16, n. 1, p. 92, doi. 10.1002/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1
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Signature-based analysis of MET proto-oncogene mutations using DHPLC.
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- Human Mutation, 2000, v. 16, n. 1, p. 68, doi. 10.1002/1098-1004(200007)16:1<68::AID-HUMU12>3.0.CO;2-U
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Evaluation of enzymatic mutation detection™ in hereditary nonpolyposis colorectal cancer.
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- Human Mutation, 2000, v. 16, n. 1, p. 61, doi. 10.1002/1098-1004(200007)16:1<61::AID-HUMU11>3.0.CO;2-H
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Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).
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- Human Mutation, 2000, v. 16, n. 1, p. 91, doi. 10.1002/1098-1004(200007)16:1<91::AID-HUMU22>3.0.CO;2-A
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A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
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- Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H
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A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis.
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- Human Mutation, 2000, v. 16, n. 1, p. 18, doi. 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N
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The spectrum of patched mutations in a collection of Australian basal cell carcinomas.
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- Human Mutation, 2000, v. 16, n. 1, p. 43, doi. 10.1002/1098-1004(200007)16:1<43::AID-HUMU8>3.0.CO;2-7
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Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family.
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- Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU19>3.0.CO;2-U
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Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).
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- Human Mutation, 2000, v. 16, n. 1, p. 92, doi. 10.1002/1098-1004(200007)16:1<92::AID-HUMU23>3.0.CO;2-4
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A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
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- Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P
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Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.
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- Human Mutation, 2000, v. 16, n. 1, p. 88, doi. 10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G
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Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy.
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- Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N
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Private β- and γ-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy.
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- Human Mutation, 2000, v. 16, n. 1, p. 13, doi. 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V
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The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
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- Human Mutation, 2000, v. 16, n. 1, p. 37, doi. 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9
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Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA.
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- Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU33>3.0.CO;2-S
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Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE.
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- Human Mutation, 2000, v. 16, n. 1, p. 88, doi. 10.1002/1098-1004(200007)16:1<88::AID-HUMU15>3.0.CO;2-J
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Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.
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- Human Mutation, 2000, v. 16, n. 1, p. 7, doi. 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A
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