𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis in Irish families with glomuvenous malformations

✍ Scribed by A.H. O'Hagan; F. Maloney; C. Buckley; E.A. Bingham; M.Y. Walsh; K.E. McKenna; D. McGibbon; A.E. Hughes

Book ID
108668596
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
278 KB
Volume
154
Category
Article
ISSN
0007-0963

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

FRAXE mutation analysis in three spanish
FRAXE mutation analysis in three spanish families
✍ Carbonell, Pablo; LΓ³pez, Isabel; GabarrΓ³n, Joaquina; BernabΓ©, M. J.; Lucas, J. M πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 722 KB

Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotypekytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or pr

Mutation analysis in 46 German families
Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations
✍ Margit Ebhardt; Hartmut Schmidt; Thilo Doerk; Uwe Tietge; Regina Haas; Michael-P πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 2 views

In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and t