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14 Screening for CFTR gene mutations and analysis of the TG12-T5 haplotype in infertile patients

✍ Scribed by L. Tamburino; A. Guglielmino; E. Venti; S. Chamayou


Book ID
118640644
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
124 KB
Volume
5
Category
Article
ISSN
1569-1993

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Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations are clustered in several hotspots, namely the rod ends of the 1A and 2B domains and in the non-helical linker region L12.