๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient

โœ Scribed by A.M. Birot; B. Delobel; P. Gronnier; V. Bonnet; I. Maire; D. Bozon


Book ID
101263804
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
271 KB
Volume
7
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Deletion of 8.5 Mb, including theFMR1 ge
โœ Parvari, R.; Mumm, S.; Galil, A.; Manor, E.; Bar-David, Y.; Carmi, R. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 29 KB ๐Ÿ‘ 2 views

A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200