𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Variable phenotypes associated with mutations in DOK7

✍ Scribed by Jennifer A. Anderson; Jarae J. Ng; Constance Bowe; Craig Mcdonald; David P. Richman; Robert L. Wollmann; Ricardo A. Maselli


Book ID
102535576
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
231 KB
Volume
37
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Phenotypic variability associated with A
✍ Dominic B. Fee; Yuen T. So; Carlos Barraza; Karla P. Figueroa; Stefan-M. Pulst πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 153 KB

## Abstract Caveolin3 (CAV3) is a protein associated with dystrophin, dystrophin‐associated glycoproteins, and dysferlin. Mutations in the __CAV3__ gene result in certain autosomal‐dominant inherited diseases, namely, rippling muscle disease (RMD), limb‐girdle muscular dystrophy type 1C (LGMD1C), d

Extending the phenotypes associated with
✍ William D. Foulkes; Amin Bahubeshi; Nancy Hamel; Barbara Pasini; Sofia Asioli; G πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 136 KB

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially