Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 6
Results: 17
A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).
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- Human Mutation, 2004, v. 24, n. 6, p. 474, doi. 10.1002/humu.20101
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Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.
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- Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9291
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LDL-receptor mutations in Europe.
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- Human Mutation, 2004, v. 24, n. 6, p. 443, doi. 10.1002/humu.20105
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A novel mutation in KCNA1 causes episodic ataxia without myokymia.
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- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9295
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High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging.
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- Human Mutation, 2004, v. 24, n. 6, p. 517, doi. 10.1002/humu.20100
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Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
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- Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9290
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Mutations in the MMAA gene in patients with the cblA disorder of vitamin B<sub>12</sub> metabolism.
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- Human Mutation, 2004, v. 24, n. 6, p. 509, doi. 10.1002/humu.20104
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Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.
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- Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9294
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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
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- Human Mutation, 2004, v. 24, n. 6, p. 491, doi. 10.1002/humu.20103
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- Article
A novel mutation in UDP- N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
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- Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9293
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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.
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- Human Mutation, 2004, v. 24, n. 6, p. 466, doi. 10.1002/humu.20095
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Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.
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- Human Mutation, 2004, v. 24, n. 6, p. 481, doi. 10.1002/humu.20099
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Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: Interaction with the nuclear receptor NR4A3/NOR1.
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- Human Mutation, 2004, v. 24, n. 6, p. 502, doi. 10.1002/humu.20102
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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
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- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9296
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- Article
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
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- Human Mutation, 2004, v. 24, n. 6, p. 526, doi. 10.1002/humu.20117
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- Article
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
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- Human Mutation, 2004, v. 24, n. 6, p. 460, doi. 10.1002/humu.20094
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Mutations of the Nogo-66 receptor ( RTN4R) gene in schizophrenia.
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- Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9292
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- Article