Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 98, doi. 10.1002/humu.10095
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 2
Results: 11
1
2
Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 133, doi. 10.1002/humu.10099
- By:
- Publication type:
- Article
3
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 110, doi. 10.1002/humu.10101
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- Publication type:
- Article
4
Mutation analysis of the spastin gene ( SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 127, doi. 10.1002/humu.10105
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- Publication type:
- Article
5
The molecular basis of cystathionine β-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 117, doi. 10.1002/humu.10104
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- Publication type:
- Article
6
I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 148, doi. 10.1002/humu.10103
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- Publication type:
- Article
7
Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 151, doi. 10.1002/humu.9048
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- Publication type:
- Article
8
The UMD-LDLR database: additions to the software and 490 new entries to the database.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 81, doi. 10.1002/humu.10102
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- Publication type:
- Article
9
An amplification and ligation-based method to scan for unknown mutations in DNA.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 139, doi. 10.1002/humu.10106
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- Publication type:
- Article
10
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 151, doi. 10.1002/humu.9047
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- Publication type:
- Article
11
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 88, doi. 10.1002/humu.10098
- By:
- Publication type:
- Article