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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

✍ Scribed by Sylvius, N

Book ID
120077618
Publisher
BMJ Publishing Group
Year
2005
Tongue
English
Weight
377 KB
Volume
42
Category
Article
ISSN
0022-2593

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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