Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 12
Results: 9
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1387, doi. 10.1002/humu.20835
- By:
- Publication type:
- Article
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1392, doi. 10.1002/humu.20783
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- Publication type:
- Article
Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms.
- Published in:
- 2008
- By:
- Publication type:
- Other
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1425, doi. 10.1002/humu.20797
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- Publication type:
- Article
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update.
- Published in:
- 2008
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- Publication type:
- Other
Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1443, doi. 10.1002/humu.20803
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- Publication type:
- Article
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1405, doi. 10.1002/humu.20795
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- Publication type:
- Article
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1435, doi. 10.1002/humu.20799
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- Publication type:
- Article
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1412, doi. 10.1002/humu.20796
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- Publication type:
- Article