Polymorphic variation within 'conserved' sequences at the 3′ end of the human RDS gene which results in amino acid substitutions.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 240, doi. 10.1002/humu.1380010311
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 3
Results: 14
1
2
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 197, doi. 10.1002/humu.1380010304
- By:
- Publication type:
- Article
3
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 221, doi. 10.1002/humu.1380010308
- By:
- Publication type:
- Article
4
A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 229, doi. 10.1002/humu.1380010310
- By:
- Publication type:
- Article
5
Genetic basis of galactosemia.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 190, doi. 10.1002/humu.1380010303
- By:
- Publication type:
- Article
6
Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reaction.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 260, doi. 10.1002/humu.1380010314
- By:
- Publication type:
- Article
7
Frequency and distribution of phenylketonuric mutations in orientals.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 216, doi. 10.1002/humu.1380010307
- By:
- Publication type:
- Article
8
Myotonic dystrophy: Another case of too many repeats?
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 183, doi. 10.1002/humu.1380010302
- By:
- Publication type:
- Article
9
A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 258, doi. 10.1002/humu.1380010313
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- Publication type:
- Article
10
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two sicilian kindreds with hereditary amyloidosis.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 211, doi. 10.1002/humu.1380010306
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- Publication type:
- Article
11
Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. fmi, doi. 10.1002/humu.1380010301
- Publication type:
- Article
12
Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 248, doi. 10.1002/humu.1380010312
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- Publication type:
- Article
13
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 204, doi. 10.1002/humu.1380010305
- By:
- Publication type:
- Article
14
Somatic mutations at CA-repeat loci.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 224, doi. 10.1002/humu.1380010309
- By:
- Publication type:
- Article