Found: 19
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Mutations in the estrogen receptor gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 97, doi. 10.1002/humu.1380060202
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- Publication type:
- Article
Mutational analysis of patients with X-linked adrenoleukodystrophy.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 104, doi. 10.1002/humu.1380060203
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- Publication type:
- Article
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 116, doi. 10.1002/humu.1380060204
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- Publication type:
- Article
Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 126, doi. 10.1002/humu.1380060205
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- Publication type:
- Article
Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 136, doi. 10.1002/humu.1380060206
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- Publication type:
- Article
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 144, doi. 10.1002/humu.1380060207
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- Publication type:
- Article
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 152, doi. 10.1002/humu.1380060208
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- Publication type:
- Article
Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 163, doi. 10.1002/humu.1380060209
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- Publication type:
- Article
Identification of seven novel mutations associated with metachromatic leukodystrophy.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 170, doi. 10.1002/humu.1380060210
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- Publication type:
- Article
High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 177, doi. 10.1002/humu.1380060211
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- Article
A de novo duplication in the low density lipoprotein receptor gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 181, doi. 10.1002/humu.1380060212
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- Article
A nonsense mutation in two German patients with fucosidosis.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 184, doi. 10.1002/humu.1380060213
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- Publication type:
- Article
New point mutation (R301X) of the α-galactosidase a gene causing fabry disease.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 186, doi. 10.1002/humu.1380060214
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- Publication type:
- Article
Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 188, doi. 10.1002/humu.1380060215
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- Publication type:
- Article
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 190, doi. 10.1002/humu.1380060216
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- Publication type:
- Article
Mutation Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 192, doi. 10.1002/humu.1380060217
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- Publication type:
- Article
Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 195, doi. 10.1002/humu.1380060218
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- Publication type:
- Article
Identification of a novel Ala797Thr mutation in exon 21 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 197, doi. 10.1002/humu.1380060219
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- Publication type:
- Article
Masthead.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. fmi, doi. 10.1002/humu.1380060201
- Publication type:
- Article