Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 214, doi. 10.1002/humu.1380020310
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 3
Results: 16
1
2
Mutations and polymorphisms in the prion protein gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 168, doi. 10.1002/humu.1380020303
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- Publication type:
- Article
3
Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 238, doi. 10.1002/humu.1380020314
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- Publication type:
- Article
4
Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 192, doi. 10.1002/humu.1380020307
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- Publication type:
- Article
5
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 159, doi. 10.1002/humu.1380020302
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- Publication type:
- Article
6
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 235, doi. 10.1002/humu.1380020313
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- Publication type:
- Article
7
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 185, doi. 10.1002/humu.1380020306
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- Publication type:
- Article
8
Masthead.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. fmi, doi. 10.1002/humu.1380020301
- Publication type:
- Article
9
A molecular approach to estimating the human deleterious mutation rate.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 229, doi. 10.1002/humu.1380020312
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- Publication type:
- Article
10
Molecular characterisation of Vietnamese HPFH.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 179, doi. 10.1002/humu.1380020305
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- Publication type:
- Article
11
Announcement.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 244, doi. 10.1002/humu.1380020316
- Publication type:
- Article
12
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 205, doi. 10.1002/humu.1380020309
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- Publication type:
- Article
13
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α<sub>1</sub>-antitrypsin deficiency variant P<sub>duarte</sub>.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 221, doi. 10.1002/humu.1380020311
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- Publication type:
- Article
14
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 174, doi. 10.1002/humu.1380020304
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- Publication type:
- Article
15
The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 5′ noncoding region.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 240, doi. 10.1002/humu.1380020315
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- Publication type:
- Article
16
Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 196, doi. 10.1002/humu.1380020308
- By:
- Publication type:
- Article