𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia

✍ Scribed by Wanee Plengpanich; Satapakorn Siriwong; Weerapan Khovidhunkit


Book ID
119326102
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
405 KB
Volume
58
Category
Article
ISSN
1532-8600

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification and functional analysis o
✍ Marek OrendÑè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka SokolovΓ‘; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 290 KB πŸ‘ 1 views

Homocystinuria due to cystathionine Ξ²-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al