Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 2
Results: 17
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R).
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- Human Mutation, 2000, v. 15, n. 2, p. 206, doi. 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU13>3.0.CO;2-O
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Novel cystic fibrosis mutation L1093P: Functional analysis and possible Native American origin.
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- Human Mutation, 2000, v. 15, n. 2, p. 208, doi. 10.1002/(SICI)1098-1004(200002)15:2<208::AID-HUMU17>3.0.CO;2-6
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Mutations in the human TWIST gene.
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- Human Mutation, 2000, v. 15, n. 2, p. 150, doi. 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D
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Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
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- Human Mutation, 2000, v. 15, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S
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A variation in the HindIII restriction pattern of the dystrophin gene DMD with cDMD probe 11-14.
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- Human Mutation, 2000, v. 15, n. 2, p. 204, doi. 10.1002/(SICI)1098-1004(200002)15:2<204::AID-HUMU12>3.0.CO;2-X
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Five novel mutations in fourteen patients with Fabry disease.
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- Human Mutation, 2000, v. 15, n. 2, p. 207, doi. 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C
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Screening practices for mutations in the CFTR gene ABCC7.
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- Human Mutation, 2000, v. 15, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H
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Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients.
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- Human Mutation, 2000, v. 15, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(200002)15:2<173::AID-HUMU6>3.0.CO;2-W
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Big Dye™ terminator cycle sequencing chemistry: Accuracy of the dilution process and application for screening mutations in the TCF1 and GCK genes.
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- Human Mutation, 2000, v. 15, n. 2, p. 201, doi. 10.1002/(SICI)1098-1004(200002)15:2<201::AID-HUMU11>3.0.CO;2-8
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Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition.
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- Human Mutation, 2000, v. 15, n. 2, p. 207, doi. 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU15>3.0.CO;2-F
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Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects.
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- Human Mutation, 2000, v. 15, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P
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Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
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- Human Mutation, 2000, v. 15, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z
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Nomenclature of trypsinogen mutations in hereditary pancreatitis.
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- Human Mutation, 2000, v. 15, n. 2, p. 197, doi. 10.1002/(SICI)1098-1004(200002)15:9<197::AID-HUMU9>3.0.CO;2-6
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The International Federation of Human Genetics Societies: A nexus of communication among geneticists worldwide.
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- Human Mutation, 2000, v. 15, n. 2, p. 199, doi. 10.1002/(SICI)1098-1004(200002)15:2<199::AID-HUMU10>3.0.CO;2-I
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Identification of three novel mutations of the palmitoyl-protein thioesterase-1 ( PPT1) gene in children with neuronal ceroid-lipofuscinosis.
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- Human Mutation, 2000, v. 15, n. 2, p. 206, doi. 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L
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Sequence variants of DLC1 in colorectal and ovarian tumours.
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- Human Mutation, 2000, v. 15, n. 2, p. 156, doi. 10.1002/(SICI)1098-1004(200002)15:2<156::AID-HUMU4>3.0.CO;2-4
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Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
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- Human Mutation, 2000, v. 15, n. 2, p. 189, doi. 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H
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