Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 2
Results: 19
250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.
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- Human Mutation, 2002, v. 19, n. 2, p. 131, doi. 10.1002/humu.10027
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The enigma of the San Lesmes (response to Langdon, 2002).
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- Human Mutation, 2002, v. 19, n. 2, p. 181, doi. 10.1002/humu.10038
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Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
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- Human Mutation, 2002, v. 19, n. 2, p. 185, doi. 10.1002/humu.9011
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BRCA1 and BRCA2 mutations in Russian familial breast cancer.
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- Human Mutation, 2002, v. 19, n. 2, p. 184, doi. 10.1002/humu.9008
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Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.
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- Human Mutation, 2002, v. 19, n. 2, p. 108, doi. 10.1002/humu.10040
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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
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- Human Mutation, 2002, v. 19, n. 2, p. 122, doi. 10.1002/humu.10022
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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
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- Human Mutation, 2002, v. 19, n. 2, p. 114, doi. 10.1002/humu.10033
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Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.
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- Human Mutation, 2002, v. 19, n. 2, p. 140, doi. 10.1002/humu.10026
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
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- Human Mutation, 2002, v. 19, n. 2, p. 183, doi. 10.1002/humu.10048
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Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population.
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- Human Mutation, 2002, v. 19, n. 2, p. 185, doi. 10.1002/humu.9010
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Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein.
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- Human Mutation, 2002, v. 19, n. 2, p. 149, doi. 10.1002/humu.10032
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Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
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- Human Mutation, 2002, v. 19, n. 2, p. 186, doi. 10.1002/humu.9013
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A robust method for detecting CHK2/RAD53 mutations in genomic DNA.
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- Human Mutation, 2002, v. 19, n. 2, p. 173, doi. 10.1002/humu.10031
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A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations.
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- Human Mutation, 2002, v. 19, n. 2, p. 165, doi. 10.1002/humu.10024
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Mutations and polymorphisms in the human ornithine transcarbamylase gene.
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- Human Mutation, 2002, v. 19, n. 2, p. 93, doi. 10.1002/humu.10035
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A quite different view of Maori origins: Genetic evidence of pre-19th century European settlement in New Zealand.
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- Human Mutation, 2002, v. 19, n. 2, p. 178, doi. 10.1002/humu.10039
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Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.
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- Human Mutation, 2002, v. 19, n. 2, p. 186, doi. 10.1002/humu.9012
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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
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- Human Mutation, 2002, v. 19, n. 2, p. 184, doi. 10.1002/humu.9009
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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
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- Human Mutation, 2002, v. 19, n. 2, p. 85, doi. 10.1002/humu.10034
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