Found: 12
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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
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
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
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
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
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- Publication type:
- Article
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
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
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
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
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
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- Publication type:
- Article
Erratum.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. 232, doi. 10.1002/humu.1380040312
- Publication type:
- Article
Masthead.
- Published in:
- Human Mutation, 1994, v. 4, n. 3, p. fmi, doi. 10.1002/humu.1380040301
- Publication type:
- Article