𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The genotype–phenotype correlation in Pompe disease

✍ Scribed by Marian Kroos; Marianne Hoogeveen-Westerveld; Ans van der Ploeg; Arnold J.J. Reuser


Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
282 KB
Volume
160C
Category
Article
ISSN
1552-4868

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genotype–phenotype correlations in Rubin
✍ E.K. Schorry; M. Keddache; N. Lanphear; J.H. Rubinstein; S. Srodulski; D. Fletch 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

## Abstract Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in __CREBBP__ or __EP300__ genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic

Mutation screening and genotype-phenotyp
✍ Muriel Bost; Alain Lachaux; Michèle Accominotti; Antoon Vandenberghe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti