Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 5
Results: 17
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
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- Human Mutation, 2004, v. 24, n. 5, p. 437, doi. 10.1002/humu.20108
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Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
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- Human Mutation, 2004, v. 24, n. 5, p. 417, doi. 10.1002/humu.20092
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Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.
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- Human Mutation, 2004, v. 24, n. 5, p. 400, doi. 10.1002/humu.20096
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Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene.
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- Human Mutation, 2004, v. 24, n. 5, p. 370, doi. 10.1002/humu.20087
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A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
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- Human Mutation, 2004, v. 24, n. 5, p. 440, doi. 10.1002/humu.9287
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Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
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- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9286
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Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.
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- Human Mutation, 2004, v. 24, n. 5, p. 381, doi. 10.1002/humu.20090
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A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene.
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- Human Mutation, 2004, v. 24, n. 5, p. 408, doi. 10.1002/humu.20106
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Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.
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- Human Mutation, 2004, v. 24, n. 5, p. 438, doi. 10.1002/humu.9283
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Polymorphism analysis within the HLA-A locus by universal oligonucleotide array.
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- Human Mutation, 2004, v. 24, n. 5, p. 428, doi. 10.1002/humu.20098
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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
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- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles.
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- Human Mutation, 2004, v. 24, n. 5, p. 441, doi. 10.1002/humu.9289
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- Article
CRB1 mutation spectrum in inherited retinal dystrophies.
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- Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
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- Article
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
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- Human Mutation, 2004, v. 24, n. 5, p. 435, doi. 10.1002/humu.20109
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- Article
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
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- Human Mutation, 2004, v. 24, n. 5, p. 388, doi. 10.1002/humu.20097
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ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
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- Human Mutation, 2004, v. 24, n. 5, p. 438, doi. 10.1002/humu.9284
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- Article
Homeologous recombination between AluSx-sequences as a cause of hemophilia.
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- Human Mutation, 2004, v. 24, n. 5, p. 440, doi. 10.1002/humu.9288
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- Article