๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1 -related disorders

โœ Scribed by Chaussenot, A.; Rouzier, C.; Quere, M.; Plutino, M.; Ait-El-Mkadem, S.; Bannwarth, S.; Barth, M.; Dollfus, H.; Charles, P.; Nicolino, M.; Chabrol, B.; Vialettes, B.; Paquis-Flucklinger, V.


Book ID
127046486
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
787 KB
Volume
87
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Identification of 23 TGFBR2 and 6 TGFBR1
โœ Chantal Stheneur; Gwenaรซlle Collod-Bรฉroud; Laurence Faivre; Laurent Gouya; Gille ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 421 KB ๐Ÿ‘ 1 views

TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected

Drug resistance mutations and newly reco
โœ Carlo Torti; Eugenia Quiros-Roldan; Laura Monno; Andrea Patroni; Annalisa Saraci ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 123 KB ๐Ÿ‘ 1 views

## Abstract This study aimed at identifying HIVโ€1 protease amino acid changes associated with protease inhibitor (PI) exposure and susceptibility. New amino acid substitutions were correlated with the number of experienced PIs, reaching statistical significance only for those at positions 3, 44, an