𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

✍ Scribed by Fuchs, Sigrid; Nakazawa, Mitsuru; Maw, Marion; Tamai, Makoto; Oguchi, Yoshihisa; Gal, Andreas


Book ID
109916479
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
358 KB
Volume
10
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Factor XIIIA subunit deficiency due to a
✍ Aslam, Shazia; Bowen, Derrick J.; Mandalaki, Thaki; Gialeraki, Renia; Standen, G 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 529 KB

We investigated the molecular basis of factor Xlll,, subunit deficiency in a Greek family. Each of the 15 exons of the A subunit genewere individually amplified by polymerase chain reaction, using previously reported oligoprimers. The proband with severe deficiency was found to have a homozygous 13-