Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 6
Results: 25
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy(Communicated by Arnold Munnich)Online Citation: Human Mutation, Mutation in Brief #623 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/623.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 656, doi. 10.1002/humu.9152
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The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #622 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/622.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 655, doi. 10.1002/humu.9151
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Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #621 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/621.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 655, doi. 10.1002/humu.9150
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A Novel PTPN11 mutation in LEOPARD syndrome(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #620 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/620.pdf).
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- Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9149
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Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family(Communicated by Richard G.H. Cotton)Online Citation: Human Mutation, Mutation in Brief #619 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/619.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9148
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Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population(Communicated by Michael Dean)Online Citation: Human Mutation, Mutation in Brief #618 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/618.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 653, doi. 10.1002/humu.9147
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Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #617 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/617.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 652, doi. 10.1002/humu.9146
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Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations(Communicated by Vladislav Baranov)Online Citation: Human Mutation, Mutation in Brief #616 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/616.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 652, doi. 10.1002/humu.9145
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Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease(Communicated by Christine Van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #615 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/615.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9144
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Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #614 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/614.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9143
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Incorrect headers and abstracts in Human Mutation, Volume 21, Issue 1, January 2003.
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- Human Mutation, 2003, v. 21, n. 6, p. 650, doi. 10.1002/humu.10229
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- Article
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy(Communicated by Henrik Dahl).
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- Human Mutation, 2003, v. 21, n. 6, p. 582, doi. 10.1002/humu.10225
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Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH(Communicated by Peter Byers).
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- Human Mutation, 2003, v. 21, n. 6, p. 569, doi. 10.1002/humu.10223
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A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7(Communicated by Mark H. Paalman).
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- Human Mutation, 2003, v. 21, n. 6, p. 645, doi. 10.1002/humu.10222
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A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity(Communicated by Andreas Gal).
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- Human Mutation, 2003, v. 21, n. 6, p. 630, doi. 10.1002/humu.10220
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An ABCA4 genomic deletion in patients with Stargardt disease(Communicated by Haig H. Kazazian, Jr.).
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- Human Mutation, 2003, v. 21, n. 6, p. 636, doi. 10.1002/humu.10219
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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy(Communicated by Jacques S. Beckmann).
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- Human Mutation, 2003, v. 21, n. 6, p. 615, doi. 10.1002/humu.10217
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Mutation analysis in patients with N-acetylglutamate synthase deficiency(Communicated by Andreas Gal).
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- Human Mutation, 2003, v. 21, n. 6, p. 593
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay(Communicated by Paolo Fortina).
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- Human Mutation, 2003, v. 21, n. 6, p. 622, doi. 10.1002/humu.10215
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Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy(Communicated by Jean-Louis Mandel).
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- Human Mutation, 2003, v. 21, n. 6, p. 608, doi. 10.1002/humu.10214
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Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms(Communicated by Edward G.D. Tuddenham).
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- Human Mutation, 2003, v. 21, n. 6, p. 557, doi. 10.1002/humu.10213
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Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update(Communicated by Richard G.H. Cotton).
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- Human Mutation, 2003, v. 21, n. 6, p. 577, doi. 10.1002/humu.10212
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Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations(Communicated by William S. Sly).
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- Human Mutation, 2003, v. 21, n. 6, p. 598, doi. 10.1002/humu.10211
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Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency(Communicated by Richard G.H. Cotton).
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- Human Mutation, 2003, v. 21, n. 6, p. 649
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Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide(Communicated by Andreas Gal).
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- Human Mutation, 2003, v. 21, n. 6, p. 587, doi. 10.1002/humu.10209
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