Masthead.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. fmi, doi. 10.1002/humu.1380050301
- Publication type:
- Article
Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 3
Results: 16
1
2
Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 263, doi. 10.1002/humu.1380050312
- By:
- Publication type:
- Article
3
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 210, doi. 10.1002/humu.1380050305
- By:
- Publication type:
- Article
4
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 277, doi. 10.1002/humu.1380050316
- By:
- Publication type:
- Article
5
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 243, doi. 10.1002/humu.1380050309
- By:
- Publication type:
- Article
6
A Single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 260, doi. 10.1002/humu.1380050311
- By:
- Publication type:
- Article
7
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: Identification of three novel alleles.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 205, doi. 10.1002/humu.1380050304
- By:
- Publication type:
- Article
8
Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 275, doi. 10.1002/humu.1380050315
- By:
- Publication type:
- Article
9
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 235, doi. 10.1002/humu.1380050308
- By:
- Publication type:
- Article
10
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 251, doi. 10.1002/humu.1380050310
- By:
- Publication type:
- Article
11
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 197, doi. 10.1002/humu.1380050303
- By:
- Publication type:
- Article
12
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 272, doi. 10.1002/humu.1380050314
- By:
- Publication type:
- Article
13
Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 228, doi. 10.1002/humu.1380050307
- By:
- Publication type:
- Article
14
Transthyretin mutations in health and disease.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 191, doi. 10.1002/humu.1380050302
- By:
- Publication type:
- Article
15
Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 269, doi. 10.1002/humu.1380050313
- By:
- Publication type:
- Article
16
Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 221, doi. 10.1002/humu.1380050306
- By:
- Publication type:
- Article