Complete mutation detection using unlabeled chemical cleavage.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 63, doi. 10.1002/humu.1380010110
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 1
Results: 16
1
2
Partial gene duplication as a cause of human disease.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 3, doi. 10.1002/humu.1380010103
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- Publication type:
- Article
3
A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 77, doi. 10.1002/humu.1380010114
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- Publication type:
- Article
4
Novel Tay-Sachs disease mutations from China.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 40, doi. 10.1002/humu.1380010107
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- Publication type:
- Article
5
Editorial.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 1, doi. 10.1002/humu.1380010102
- By:
- Publication type:
- Article
6
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 75, doi. 10.1002/humu.1380010113
- By:
- Publication type:
- Article
7
A glycine<sub>250</sub> → aspartate substitution in the α-subunit of hexosaminidase a causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 35, doi. 10.1002/humu.1380010106
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- Publication type:
- Article
8
Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. fmi, doi. 10.1002/humu.1380010101
- Publication type:
- Article
9
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 72, doi. 10.1002/humu.1380010112
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- Publication type:
- Article
10
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 24, doi. 10.1002/humu.1380010105
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- Publication type:
- Article
11
Announcement.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 80, doi. 10.1002/humu.1380010116
- Publication type:
- Article
12
Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 55, doi. 10.1002/humu.1380010109
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- Publication type:
- Article
13
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 70, doi. 10.1002/humu.1380010111
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- Publication type:
- Article
14
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 13, doi. 10.1002/humu.1380010104
- By:
- Publication type:
- Article
15
Fabrillin (FBN1) mutations in Marfan syndrome.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 79, doi. 10.1002/humu.1380010115
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- Publication type:
- Article
16
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 47, doi. 10.1002/humu.1380010108
- By:
- Publication type:
- Article