Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 4
Results: 16
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
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- Human Mutation, 2002, v. 20, n. 4, p. 305, doi. 10.1002/humu.10118
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PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
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- Human Mutation, 2002, v. 20, n. 4, p. 298, doi. 10.1002/humu.10129
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Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
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- Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9065
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MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
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- Human Mutation, 2002, v. 20, n. 4, p. 323, doi. 10.1002/humu.9069
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Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
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- Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9067
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
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- Human Mutation, 2002, v. 20, n. 4, p. 284, doi. 10.1002/humu.10124
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One-Step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs.
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- Human Mutation, 2002, v. 20, n. 4, p. 323, doi. 10.1002/humu.9068
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Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
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- Human Mutation, 2002, v. 20, n. 4, p. 249, doi. 10.1002/humu.10130
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rSNP_Guide: An integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sites.
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- Human Mutation, 2002, v. 20, n. 4, p. 239, doi. 10.1002/humu.10116
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Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
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- Human Mutation, 2002, v. 20, n. 4, p. 312, doi. 10.1002/humu.10127
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Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome.
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- Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9064
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Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assay.
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- Human Mutation, 2002, v. 20, n. 4, p. 253, doi. 10.1002/humu.10111
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Characterization of a novel CYP2A7/CYP2A6 hybrid allele ( CYP2A6*12) that causes reduced CYP2A6 activity.
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- Human Mutation, 2002, v. 20, n. 4, p. 275, doi. 10.1002/humu.10126
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High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.
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- Human Mutation, 2002, v. 20, n. 4, p. 267, doi. 10.1002/humu.10119
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Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
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- Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066
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- Article
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
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- Human Mutation, 2002, v. 20, n. 4, p. 260, doi. 10.1002/humu.10121
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- Article