In order to determine the molecular defect in the CFTR gene in uncharacterized CF patients from former Yugoslavia, we have employed SSCP analysis of PCR amplified fragments of exon 12 of the CFTR gene (Orita et al., 1989) (primer sequences available on request). A bandshift was detected in a DNA sam
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease
✍ Scribed by H. A. Özkara; B. R. Akerman; G. Ciliv; M. Topçu; Y. Renda; R. A. Gravel
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 172 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1059-7794
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