Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 3
Results: 18
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
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- Human Mutation, 2001, v. 17, n. 3, p. 183, doi. 10.1002/humu.3
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- Article
An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).
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- Human Mutation, 2001, v. 17, n. 3, p. 220, doi. 10.1002/humu.7
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Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese.
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- Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.13
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Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat.
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- Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.17
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Mutations in the human DHCR7 gene.
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- Human Mutation, 2001, v. 17, n. 3, p. 172, doi. 10.1002/humu.2
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Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods.
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- Human Mutation, 2001, v. 17, n. 3, p. 210, doi. 10.1002/humu.6
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- Article
Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.
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- Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.12
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A new human mtDNA polymorphism: MTND6: 14562 (C→T).
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- Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.16
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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
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- Human Mutation, 2001, v. 17, n. 3, p. 159, doi. 10.1002/humu.1
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Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
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- Human Mutation, 2001, v. 17, n. 3, p. 199, doi. 10.1002/humu.5
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Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.
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- Human Mutation, 2001, v. 17, n. 3, p. 235, doi. 10.1002/humu.10
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Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).
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- Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.11
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- Article
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.
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- Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.15
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- Article
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
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- Human Mutation, 2001, v. 17, n. 3, p. 191, doi. 10.1002/humu.4
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Low level mosaicism detectable by DHPLC but not by direct sequencing.
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- Human Mutation, 2001, v. 17, n. 3, p. 233, doi. 10.1002/humu.8
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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
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- Human Mutation, 2001, v. 17, n. 3, p. 235, doi. 10.1002/humu.9
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- Article
Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.
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- Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.14
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- Article
A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
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- Human Mutation, 2001, v. 17, n. 3, p. 239, doi. 10.1002/humu.18
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- Article