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Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene

✍ Scribed by Paul Dighiero; Sophie Valleix; François D’Hermies; Séverine Drunat; Pierre Ellies; Michèle Savoldelli; Yves Pouliquen; Marc Delpech; Jean-Marc Legeais; Gilles Renard


Book ID
117326799
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
947 KB
Volume
107
Category
Article
ISSN
0161-6420

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Heterogeneity in granular corneal dystro
✍ Helen S. Stewart; Alan E. Ridgway; Michael J. Dixon; Richard Bonshek; Rahat Parv 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB 👁 2 views

Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers. Initially an exact genotype-phenotype correlation was reported