Population variation of common cystic fibrosis mutations.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 167, doi. 10.1002/humu.1380040302
- Publication type:
- Article
Works matching IS 10597794 AND DT 1994 AND VI 4 AND IP 3
Results: 12
1
2
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)<sub>n</sub> and map to human X and Y chromosomes.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 208, doi. 10.1002/humu.1380040306
- By:
- Publication type:
- Article
3
Masthead.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. fmi, doi. 10.1002/humu.1380040301
- Publication type:
- Article
4
Erratum.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 232, doi. 10.1002/humu.1380040312
- Publication type:
- Article
5
Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 199, doi. 10.1002/humu.1380040305
- By:
- Publication type:
- Article
6
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 224, doi. 10.1002/humu.1380040309
- By:
- Publication type:
- Article
7
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 229, doi. 10.1002/humu.1380040311
- By:
- Publication type:
- Article
8
Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 195, doi. 10.1002/humu.1380040304
- By:
- Publication type:
- Article
9
Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic finnish families by the single-strand conformation polymorphism method.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 217, doi. 10.1002/humu.1380040308
- By:
- Publication type:
- Article
10
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 227, doi. 10.1002/humu.1380040310
- By:
- Publication type:
- Article
11
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 178, doi. 10.1002/humu.1380040303
- By:
- Publication type:
- Article
12
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 212, doi. 10.1002/humu.1380040307
- By:
- Publication type:
- Article