Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 1
Results: 14
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR.
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- Human Mutation, 1998, v. 11, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1998)11:1<84::AID-HUMU13>3.0.CO;2-V
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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function.
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- Human Mutation, 1998, v. 11, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L
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Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
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- Human Mutation, 1998, v. 11, n. 1, p. 39, doi. 10.1002/(SICI)1098-1004(1998)11:1<39::AID-HUMU6>3.0.CO;2-G
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Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
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- Human Mutation, 1998, v. 11, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W
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The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
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- Human Mutation, 1998, v. 11, n. 1, p. 28, doi. 10.1002/(SICI)1098-1004(1998)11:1<28::AID-HUMU5>3.0.CO;2-H
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Recommendations for a nomenclature system for human gene mutations.
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- Human Mutation, 1998, v. 11, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O
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Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
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- Human Mutation, 1998, v. 11, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)11:1<69::AID-HUMU11>3.0.CO;2-X
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A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
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- Human Mutation, 1998, v. 11, n. 1, p. 55, doi. 10.1002/(SICI)1098-1004(1998)11:1<55::AID-HUMU9>3.0.CO;2-K
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Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.
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- Human Mutation, 1998, v. 11, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M
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Mutation analysis of interleukin-5 in an asthmatic cohort.
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- Human Mutation, 1998, v. 11, n. 1, p. 51, doi. 10.1002/(SICI)1098-1004(1998)11:1<51::AID-HUMU8>3.0.CO;2-O
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Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
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- Human Mutation, 1998, v. 11, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X
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Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
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- Human Mutation, 1998, v. 11, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U
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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
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- Human Mutation, 1998, v. 11, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K
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Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts.
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- Human Mutation, 1998, v. 11, n. 1, p. 18, doi. 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H
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