𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model

✍ Scribed by M Corton; MJ Blanco; M Torres; M Sanchez-Salorio; A Carracedo; M Brion


Book ID
110889091
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
726 KB
Volume
78
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of a novel R552Q mutation
✍ Diana Valverde; Montserrat Baiget; RamΓ³n Seminago; Elisabeth Del Rio; Blanca Gar πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 218 KB πŸ‘ 1 views

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o