Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 5
Results: 20
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
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- Human Mutation, 2001, v. 17, n. 5, p. 368, doi. 10.1002/humu.1111
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- Article
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
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- Human Mutation, 2001, v. 17, n. 5, p. 433, doi. 10.1002/humu.1122
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Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
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- Human Mutation, 2001, v. 17, n. 5, p. 397, doi. 10.1002/humu.1115
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Identification of four novel polymorphisms in the calcitonin/α-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression.
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- Human Mutation, 2001, v. 17, n. 5, p. 435, doi. 10.1002/humu.1126
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Clinical spectrum of fibroblast growth factor receptor mutations; M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertié, L.G. Alonso, and H. Kitoh; (Article was originally published in Human Mutation 14:115-125, 1999).
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- Human Mutation, 2001, v. 17, n. 5, p. 431, doi. 10.1002/humu.1119
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- Article
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
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- Human Mutation, 2001, v. 17, n. 5, p. 357, doi. 10.1002/humu.1110
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Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
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- Human Mutation, 2001, v. 17, n. 5, p. 432, doi. 10.1002/humu.1121
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Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
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- Human Mutation, 2001, v. 17, n. 5, p. 389, doi. 10.1002/humu.1114
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Nine novel APC mutations in Italian FAP patients.
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- Human Mutation, 2001, v. 17, n. 5, p. 434, doi. 10.1002/humu.1125
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A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
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- Human Mutation, 2001, v. 17, n. 5, p. 423, doi. 10.1002/humu.1118
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Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients.
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- Human Mutation, 2001, v. 17, n. 5, p. 437, doi. 10.1002/humu.1129
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Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
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- Human Mutation, 2001, v. 17, n. 5, p. 432, doi. 10.1002/humu.1120
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Variable expressivity and mutation databases: The androgen receptor gene mutations database.
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- Human Mutation, 2001, v. 17, n. 5, p. 382, doi. 10.1002/humu.1113
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Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
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- Human Mutation, 2001, v. 17, n. 5, p. 434, doi. 10.1002/humu.1124
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Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.
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- Human Mutation, 2001, v. 17, n. 5, p. 412, doi. 10.1002/humu.1117
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A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
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- Human Mutation, 2001, v. 17, n. 5, p. 437, doi. 10.1002/humu.1128
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Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.
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- Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112
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Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families.
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- Human Mutation, 2001, v. 17, n. 5, p. 433, doi. 10.1002/humu.1123
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Pendred syndrome, DFNB4, and PDS/ SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
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- Human Mutation, 2001, v. 17, n. 5, p. 403, doi. 10.1002/humu.1116
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RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
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- Human Mutation, 2001, v. 17, n. 5, p. 436, doi. 10.1002/humu.1127
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