๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene

โœ Scribed by Coffee, Bradford; Hjelm, Lawrence N; Delorenzo, Angela; Courtney, Ebony M; Yu, Chunli; Muralidharan, Kasinathan


Book ID
125805634
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
1005 KB
Volume
8
Category
Article
ISSN
1098-3600

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Classical galactosemia and mutations at
โœ Linda Tyfield; Juergen Reichardt; Judy Fridovich-Keil; David T. Croke; Louis J. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 763 KB

Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes

On the molecular nature of the Duarte va
โœ Hsien-Chin Lin; Lorne T. Kirby; Won G. Ng; Juergen K. V. Reichardt ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer ๐ŸŒ English โš– 401 KB

Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Du

Gene dosage studies supporting localizat
โœ Shih, Ling Yu ;Suslak, Lorraine ;Rosin, Irit ;Searle, Bernard M. ;Desposito, Fra ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 255 KB

A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY +9p male control, a 30-year-old