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Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1998)11:3<197::AID-HUMU3>3.0.CO;2-F
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Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J
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Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations.
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- Human Mutation, 1998, v. 11, n. 3, p. 252, doi. 10.1002/(SICI)1098-1004(1998)11:3<252::AID-HUMU11>3.0.CO;2-Y
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Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages.
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- Human Mutation, 1998, v. 11, n. 3, p. 191, doi. 10.1002/(SICI)1098-1004(1998)11:3<191::AID-HUMU2>3.0.CO;2-L
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- Article
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1998)11:3<216::AID-HUMU6>3.0.CO;2-F
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Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
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- Human Mutation, 1998, v. 11, n. 3, p. 244, doi. 10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.0.CO;2-Z
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- Article
Presenilin mutations in Alzheimer's disease.
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- Human Mutation, 1998, v. 11, n. 3, p. 183, doi. 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J
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Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
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- Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C
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- Article
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
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- Human Mutation, 1998, v. 11, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L
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- Article
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 202, doi. 10.1002/(SICI)1098-1004(1998)11:3<202::AID-HUMU4>3.0.CO;2-J
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- Article
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
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- Human Mutation, 1998, v. 11, n. 3, p. 231, doi. 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K
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- Article