Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 5
Results: 9
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene ( PAH).
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- Human Mutation, 1998, v. 12, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D
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Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
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- Human Mutation, 1998, v. 12, n. 5, p. 301, doi. 10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G
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ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
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- Human Mutation, 1998, v. 12, n. 5, p. 330, doi. 10.1002/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H
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A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslated region.
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- Human Mutation, 1998, v. 12, n. 5, p. 320, doi. 10.1002/(SICI)1098-1004(1998)12:5<320::AID-HUMU5>3.0.CO;2-H
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Testing environment for single-gene disorders in U.S. reference laboratories.
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- Human Mutation, 1998, v. 12, n. 5, p. 293, doi. 10.1002/(SICI)1098-1004(1998)12:5<293::AID-HUMU1>3.0.CO;2-F
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Rapid and nonisotopic SSCP-based analysis of the BAT-26 mononucleotide repeat for identification of the replication error phenotype in human cancers.
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- Human Mutation, 1998, v. 12, n. 5, p. 355, doi. 10.1002/(SICI)1098-1004(1998)12:5<355::AID-HUMU9>3.0.CO;2-C
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Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
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- Human Mutation, 1998, v. 12, n. 5, p. 314, doi. 10.1002/(SICI)1098-1004(1998)12:5<314::AID-HUMU4>3.0.CO;2-D
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Ten novel mutations found in aniridia.
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- Human Mutation, 1998, v. 12, n. 5, p. 304, doi. 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D
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Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations.
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- Human Mutation, 1998, v. 12, n. 5, p. 338, doi. 10.1002/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9
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