Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 1
Results: 19
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
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- Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9391
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Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
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- Human Mutation, 2006, v. 27, n. 1, p. 62, doi. 10.1002/humu.20274
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Functional polymorphisms in dopamine and serotonin pathway genes.
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- Human Mutation, 2006, v. 27, n. 1, p. 1, doi. 10.1002/humu.20278
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HEY2 mutations in malformed hearts.
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- Human Mutation, 2006, v. 27, n. 1, p. 118, doi. 10.1002/humu.9390
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Functional polymorphism in ALOX15 results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1.
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- Human Mutation, 2006, v. 27, n. 1, p. 78, doi. 10.1002/humu.20273
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Characterization of simple sequence repeat variants linked to candidate genes for behavioral phenotypes.
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- Human Mutation, 2006, v. 27, n. 1, p. 120, doi. 10.1002/humu.9394
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Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.
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- Human Mutation, 2006, v. 27, n. 1, p. 88, doi. 10.1002/humu.20266
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Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.
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- Human Mutation, 2006, v. 27, n. 1, p. 110, doi. 10.1002/humu.20277
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ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene.
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- Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9393
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Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
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- Human Mutation, 2006, v. 27, n. 1, p. 69, doi. 10.1002/humu.20276
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Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
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- Human Mutation, 2006, v. 27, n. 1, p. 31, doi. 10.1002/humu.20258
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The UMD TP53 database and website: update and revisions.
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- Human Mutation, 2006, v. 27, n. 1, p. 14, doi. 10.1002/humu.20269
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Preferential occurrence of 1-2 microindels.
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- Human Mutation, 2006, v. 27, n. 1, p. 55, doi. 10.1002/humu.20260
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Germline mutations of the MSR1 gene in prostate cancer families from Germany.
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- Human Mutation, 2006, v. 27, n. 1, p. 98, doi. 10.1002/humu.20271
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Novel mutations in the human sucrase-isomaltase gene ( SI) that cause congenital carbohydrate malabsorption.
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- Human Mutation, 2006, v. 27, n. 1, p. 119, doi. 10.1002/humu.9392
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Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
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- Human Mutation, 2006, v. 27, n. 1, p. 44, doi. 10.1002/humu.20264
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Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
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- Human Mutation, 2006, v. 27, n. 1, p. 103, doi. 10.1002/humu.20275
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An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.
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- Human Mutation, 2006, v. 27, n. 1, p. 21, doi. 10.1002/humu.20268
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Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
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- Human Mutation, 2006, v. 27, n. 1, p. 118, doi. 10.1002/humu.9389
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- Article