𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Segregation of a mutation inCNGB1encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

✍ Scribed by Corinne Bareil; Christian Hamel; Valérie Delague; Bernard Arnaud; Jacques Demaille; Mireille Claustres


Book ID
106137367
Publisher
Springer
Year
2001
Tongue
English
Weight
111 KB
Volume
108
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of a novel R552Q mutation
✍ Diana Valverde; Montserrat Baiget; Ramón Seminago; Elisabeth Del Rio; Blanca Gar 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 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