Masthead.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. fmi, doi. 10.1002/humu.1380040101
- Publication type:
- Article
Works matching IS 10597794 AND DT 1994 AND VI 4 AND IP 1
Results: 15
1
2
Three novel β-hexosaminidase a mutations in obligate carriers of Tay-Sachs disease.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 71, doi. 10.1002/humu.1380040112
- By:
- Publication type:
- Article
3
(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 31, doi. 10.1002/humu.1380040105
- By:
- Publication type:
- Article
4
Seven new mutations in the human ornithine transcarbamylase gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 57, doi. 10.1002/humu.1380040109
- By:
- Publication type:
- Article
5
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 65, doi. 10.1002/humu.1380040111
- By:
- Publication type:
- Article
6
Scanning method to establish the molecular basis of protein C deficiencies.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 20, doi. 10.1002/humu.1380040104
- By:
- Publication type:
- Article
7
North Eurasian origin of the myotonic dystrophy mutation.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 79, doi. 10.1002/humu.1380040115
- By:
- Publication type:
- Article
8
Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 55, doi. 10.1002/humu.1380040108
- By:
- Publication type:
- Article
9
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 61, doi. 10.1002/humu.1380040110
- By:
- Publication type:
- Article
10
Two coding change mutations in the HIS2<sup>2</sup> allele characterize the salivary histatin 3-2 protein variant.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 12, doi. 10.1002/humu.1380040103
- By:
- Publication type:
- Article
11
Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 76, doi. 10.1002/humu.1380040114
- By:
- Publication type:
- Article
12
High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 51, doi. 10.1002/humu.1380040107
- By:
- Publication type:
- Article
13
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 1, doi. 10.1002/humu.1380040102
- By:
- Publication type:
- Article
14
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 73, doi. 10.1002/humu.1380040113
- By:
- Publication type:
- Article
15
Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 42, doi. 10.1002/humu.1380040106
- By:
- Publication type:
- Article