𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

✍ Scribed by Santiago Borrero, Pedro J; Rodríguez-Pérez, Yolanda; Renta, Jessicca Y; Izquierdo, Natalio J; del Fierro, Laura; Muñoz, Daniel; Molina, Norma López; Ramírez, Sonia; Pagán-Mercado, Glorivee; Ortíz, Idith


Book ID
110049126
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
98 KB
Volume
126
Category
Article
ISSN
0022-202X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Exclusion of COL1A1, COL1A2, and COL3A1
✍ Boris P. Sokolov; Alexander N. Prytkov; Gerard Tromp; Robert G. Knowlton; Darwin 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 580 KB

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg