Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. fmi, doi. 10.1002/humu.1380010501
- Publication type:
- Article
Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 5
Results: 16
1
2
A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 420, doi. 10.1002/humu.1380010512
- By:
- Publication type:
- Article
3
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 375, doi. 10.1002/humu.1380010505
- By:
- Publication type:
- Article
4
Gene duplication in evolution.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 434, doi. 10.1002/humu.1380010516
- By:
- Publication type:
- Article
5
An N-acetylgalactosamine-4-sulfatase mutation (ΔG<sub>238</sub>) results in a severe Maroteaux-Lamy phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 397, doi. 10.1002/humu.1380010509
- By:
- Publication type:
- Article
6
A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 417, doi. 10.1002/humu.1380010511
- By:
- Publication type:
- Article
7
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 366, doi. 10.1002/humu.1380010504
- By:
- Publication type:
- Article
8
Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 432, doi. 10.1002/humu.1380010515
- By:
- Publication type:
- Article
9
CRIM-positive mutations of acute intermittent porphyria in Finland.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 392, doi. 10.1002/humu.1380010508
- By:
- Publication type:
- Article
10
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 403, doi. 10.1002/humu.1380010510
- By:
- Publication type:
- Article
11
Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 361, doi. 10.1002/humu.1380010503
- By:
- Publication type:
- Article
12
Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 428, doi. 10.1002/humu.1380010514
- By:
- Publication type:
- Article
13
A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 388, doi. 10.1002/humu.1380010507
- By:
- Publication type:
- Article
14
Illegitimate transcription: Its use in the study of inherited disease.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 357, doi. 10.1002/humu.1380010502
- By:
- Publication type:
- Article
15
Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 423, doi. 10.1002/humu.1380010513
- By:
- Publication type:
- Article
16
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 380, doi. 10.1002/humu.1380010506
- By:
- Publication type:
- Article