Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 2
Results: 23
Mutations in holoprosencephaly.
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- Human Mutation, 2000, v. 16, n. 2, p. 99, doi. 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0
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Study of the voltage-gated sodium channel β1 subunit gene ( SCN1B) in the benign familial infantile convulsions syndrome (BFIC).
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- Human Mutation, 2000, v. 16, n. 2, p. 139, doi. 10.1002/1098-1004(200008)16:2<139::AID-HUMU6>3.0.CO;2-J
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A novel variant of human lysozyme (T70N) is common in the normal population.
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- Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU20>3.0.CO;2-#
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Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
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- Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8
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mut<sup>0</sup> methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
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- Human Mutation, 2000, v. 16, n. 2, p. 179, doi. 10.1002/1098-1004(200008)16:2<179::AID-HUMU17>3.0.CO;2-R
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VARIATION, DATABASES, and DISEASE: New directions for Human Mutation.
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- Human Mutation, 2000, v. 16, n. 2, p. 97, doi. 10.1002/1098-1004(200008)16:2<97::AID-HUMU1>3.0.CO;2-5
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The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase.
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- Human Mutation, 2000, v. 16, n. 2, p. 132, doi. 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T
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Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
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- Human Mutation, 2000, v. 16, n. 2, p. 166, doi. 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4
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Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays.
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- Human Mutation, 2000, v. 16, n. 2, p. 176, doi. 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E
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Common polymorphism in p53 intron 2, IVS2+38G>C.
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- Human Mutation, 2000, v. 16, n. 2, p. 181, doi. 10.1002/1098-1004(200008)16:2<181::AID-HUMU23>3.0.CO;2-O
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Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency.
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- Human Mutation, 2000, v. 16, n. 2, p. 178, doi. 10.1002/1098-1004(200008)16:2<178::AID-HUMU16>3.0.CO;2-X
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The Breast Cancer Information Core: Database design, structure, and scope.
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- Human Mutation, 2000, v. 16, n. 2, p. 123, doi. 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y
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OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling.
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- Human Mutation, 2000, v. 16, n. 2, p. 157, doi. 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9
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Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
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- Human Mutation, 2000, v. 16, n. 2, p. 176, doi. 10.1002/1098-1004(200008)16:2<176::AID-HUMU11>3.0.CO;2-H
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Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.
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- Human Mutation, 2000, v. 16, n. 2, p. 181, doi. 10.1002/1098-1004(200008)16:2<181::AID-HUMU22>3.0.CO;2-R
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Eleven novel APC mutations identified in Portuguese FAP families.
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- Human Mutation, 2000, v. 16, n. 2, p. 178, doi. 10.1002/1098-1004(200008)16:2<178::AID-HUMU15>3.0.CO;2-#
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Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family.
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- Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU19>3.0.CO;2-A
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Mutations of the human PTEN gene.
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- Human Mutation, 2000, v. 16, n. 2, p. 109, doi. 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0
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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
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- Human Mutation, 2000, v. 16, n. 2, p. 143, doi. 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
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Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients; Irina V. Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov, Elena L. Dadali, Valeriy P. Fedotov, Eva Nelis, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, and Oleg V. Evgrafov (Article was originally published in Human Mutation 15:340-347, 2000)
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- Human Mutation, 2000, v. 16, n. 2, p. 175, doi. 10.1002/1098-1004(200008)16:2<175::AID-HUMU10>3.0.CO;2-N
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A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case.
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- Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X
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Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
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- Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5
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A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene.
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- Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU18>3.0.CO;2-D
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