Identification and in silico analysis of novel mutations in the galki and gale genes of Filipino non-classical galactosemia patients

Identification and in silico analysis of novel mutations in the galki and gale genes of Filipino non-classical galactosemia patients

The galactosemias are inherited disorders caused by a deficiency in any of the three enzymes in the galactose metabolic pathway. The non-classical forms are estimated to be twice in the galactose metabolic pathway. The non-classical forms are estimated to be twice as prevalent in the Philippines as...

Ausführliche Beschreibung

Bibliographische Detailangaben
1. Verfasser: Hernandez, Karen N. (VerfasserIn)
Weitere Verfasser: Lee, Jong Wha (adviser.), Silao, Catherine Lynn T. (co-adviser.)
Format: Abschlussarbeit
Sprache:English
Veröffentlicht: Quezon City Institute of Chemistry, College of Science, University of the Philippines Diliman 2013.
Schlagworte:
Galactosemias.