๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family

โœ Scribed by Shamseddine, A. ;Taher, A. ;Fakhani, S. ;Zhang, M. ;Scott, C. Ronald ;Habbal, M.Z.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
62 KB
Volume
125A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A novel mutation (V191G) in a German-Bri
โœ Francis Y. M. Choy; M. Lisa Humphries; Yoav Ben-Yoseph ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 46 KB ๐Ÿ‘ 1 views

Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m

Novel insertion mutation in a non-Jewish
โœ Choy, Francis Y. M.; Humphries, M. Lisa; Ferreira, Patrick ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 132 KB

Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).

Novel recurrent nonsense mutation causin
โœ Bahuau, Michel; Houdayer, Claude; Assouline, Brigitte; Blanchet-Bardon, Claudine ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB ๐Ÿ‘ 2 views

Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece