Works matching IS 10597794 AND DT 1995 AND VI 6 AND IP 3
Results: 21
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 226, doi. 10.1002/humu.1380060305
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- Article
Two intronic mutations in the adrenoleukodystrophy gene.
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- Human Mutation, 1995, v. 6, n. 3, p. 272, doi. 10.1002/humu.1380060316
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- Article
Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 250, doi. 10.1002/humu.1380060309
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- Article
Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.
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- Human Mutation, 1995, v. 6, n. 3, p. 254, doi. 10.1002/humu.1380060311
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- Article
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
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- Human Mutation, 1995, v. 6, n. 3, p. 219, doi. 10.1002/humu.1380060304
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- Article
A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 268, doi. 10.1002/humu.1380060315
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- Article
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 247, doi. 10.1002/humu.1380060308
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- Article
Novel missense mutation S108F in exon 4 of the CFTR gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 278, doi. 10.1002/humu.1380060319
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- Article
Novel seventeen basepair deletion in exon 3 of the β-globin gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 252, doi. 10.1002/humu.1380060310
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- Article
A novel mutation in the CFTR gene: I506T in exon 10.
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- Human Mutation, 1995, v. 6, n. 3, p. 279, doi. 10.1002/humu.1380060321
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- Article
Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene.
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- Human Mutation, 1995, v. 6, n. 3, p. 210, doi. 10.1002/humu.1380060303
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- Article
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 263, doi. 10.1002/humu.1380060314
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- Publication type:
- Article
Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 243, doi. 10.1002/humu.1380060307
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- Publication type:
- Article
Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease).
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 276, doi. 10.1002/humu.1380060318
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- Publication type:
- Article
A frameshift mutation in codon 10 of the β-globin gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 278, doi. 10.1002/humu.1380060320
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- Publication type:
- Article
Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: Multiple gene rearrangements and modulation of splice site usage result in extensive diversification.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 199, doi. 10.1002/humu.1380060302
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- Publication type:
- Article
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 260, doi. 10.1002/humu.1380060313
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- Publication type:
- Article
Allele-specific associated polymorphism analysis: Novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 232, doi. 10.1002/humu.1380060306
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- Publication type:
- Article
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 274, doi. 10.1002/humu.1380060317
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- Article
Masthead.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. fmi, doi. 10.1002/humu.1380060301
- Publication type:
- Article
Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 257, doi. 10.1002/humu.1380060312
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- Article