Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 1
Results: 19
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (Communicated by Georgia Chenevix-Trench).
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- Human Mutation, 2004, v. 23, n. 1, p. 32, doi. 10.1002/humu.10278
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First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: Identification of a loss-of-function variant (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #682 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/682.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 101, doi. 10.1002/humu.9211
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- Article
Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #681 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/681.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 100, doi. 10.1002/humu.9210
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Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #680 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/680.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9209
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Large deletions in the polycystic kidney disease 1 (PKD1) gene (Communicated by Martin Bobrow) Online Citation: Human Mutation, Mutation in Brief #679 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/679.pdf).
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- Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9208
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Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy (Communicated by Peter Byers) Online Citation: Human Mutation, Mutation in Brief #678 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/678.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9207
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Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency (Communicated by Edward Tuddenham) Online Citation: Human Mutation, Mutation in Brief #677 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/677.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 98, doi. 10.1002/humu.9206
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Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus (Communicated by Stylianos Antonarakis) Online Citation: Human Mutation, Mutation in Brief #676 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/676.pdf)
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- Human Mutation, 2004, v. 23, n. 1, p. 98, doi. 10.1002/humu.9205
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- Article
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location (Communicated by Gregg L. Semenza).
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- Human Mutation, 2004, v. 23, n. 1, p. 40, doi. 10.1002/humu.10302
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).
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- Human Mutation, 2004, v. 23, n. 1, p. 17, doi. 10.1002/humu.10300
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A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency (Communicated by David Rimoin).
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- Human Mutation, 2004, v. 23, n. 1, p. 85, doi. 10.1002/humu.10297
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Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database (Communicated by Richard G.H. Cotton).
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- Human Mutation, 2004, v. 23, n. 1, p. 8, doi. 10.1002/humu.10296
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Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths (Communicated by Mark H. Paalman).
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- Human Mutation, 2004, v. 23, n. 1, p. 67, doi. 10.1002/humu.10295
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Pyrosequencing-based SNP allele frequency estimation in DNA pools (Communicated by Ann-Christine Syvanen).
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- Human Mutation, 2004, v. 23, n. 1, p. 92, doi. 10.1002/humu.10292
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VSD: A database for schizophrenia candidate genes focusing on variations (Communicated by Jaime Cuticchia).
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- Human Mutation, 2004, v. 23, n. 1, p. 1, doi. 10.1002/humu.10289
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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).
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- Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286
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Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) (Communicated by Mireille Claustres).
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- Human Mutation, 2004, v. 23, n. 1, p. 22, doi. 10.1002/humu.10285
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Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin (Communicated by Peter Byers).
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- Human Mutation, 2004, v. 23, n. 1, p. 77, doi. 10.1002/humu.10284
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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).
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- Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283
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- Article