๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

โœ Scribed by Orna Tighe; Jonathon M Flanagan; Fiona Kernan; Charles O'Neill; Eileen Naughten; Philip D Mayne; David T Croke


Book ID
116987523
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
168 KB
Volume
82
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


The Duarte allele impairs biostability o
โœ Kent Lai; Sharon D. Langley; Philip P. Dembure; Lawrence N. Hjelm; Louis J. Elsa ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 344 KB ๐Ÿ‘ 1 views

The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive