Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 375, doi. 10.1002/humu.1380020509
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 5
Results: 17
1
2
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 389, doi. 10.1002/humu.1380020511
- By:
- Publication type:
- Article
3
Mutational analysis of SRY in XY females.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 347, doi. 10.1002/humu.1380020504
- By:
- Publication type:
- Article
4
The first genetic marker detected in the promoter region of the thyroid peroxidase gene by single-strand conformational polymorphism analysis.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 418, doi. 10.1002/humu.1380020515
- By:
- Publication type:
- Article
5
Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 368, doi. 10.1002/humu.1380020508
- By:
- Publication type:
- Article
6
A de novo G<sup>+1</sup> → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 380, doi. 10.1002/humu.1380020510
- By:
- Publication type:
- Article
7
How sensitive is PCR-SSCP?
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 338, doi. 10.1002/humu.1380020503
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- Publication type:
- Article
8
Tay-Sachs disease in an israeli arab family: Try<sup>26</sup>→stop in the α-subunit of hexosaminidase A.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 415, doi. 10.1002/humu.1380020514
- By:
- Publication type:
- Article
9
Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 362, doi. 10.1002/humu.1380020507
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- Publication type:
- Article
10
Molecular Diagnostics: Past, present, and future.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 331, doi. 10.1002/humu.1380020502
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- Publication type:
- Article
11
Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 404, doi. 10.1002/humu.1380020513
- By:
- Publication type:
- Article
12
Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 355, doi. 10.1002/humu.1380020506
- By:
- Publication type:
- Article
13
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 422, doi. 10.1002/humu.1380020517
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- Publication type:
- Article
14
Masthead.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. fmi, doi. 10.1002/humu.1380020501
- Publication type:
- Article
15
Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 395, doi. 10.1002/humu.1380020512
- By:
- Publication type:
- Article
16
Genomic instability occurs in colorectal carcinomas but not in adenomas.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 351, doi. 10.1002/humu.1380020505
- By:
- Publication type:
- Article
17
Transthyretin ALA 71: A new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 420, doi. 10.1002/humu.1380020516
- By:
- Publication type:
- Article