Mutation hot spots in 5q31-linked corneal dystrophies.

Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits an...

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Bibliografske podrobnosti
Main Authors: Korvatska, E, Munier, F L, Djemaï, A, Wang, M X, Frueh, B, Chiou, A G, Uffer, S, Ballestrazzi, E, Braunstein, R E, Forster, R K, Culbertson, W W, Boman, H, Zografos, L, Schorderet, D F
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376896/
https://ncbi.nlm.nih.gov/pubmed/9463327
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