𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

✍ Scribed by Colin A. Graham; Elizabeth McClean; Alana J.M. Ward; E.Diane Beattie; Sonya Martin; Maurice O’Kane; Ian S. Young; D.Paul Nicholls

Book ID
118232432
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
496 KB
Volume
147
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation screening and genotype-phenotyp
Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease
✍ 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