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A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family

โœ Scribed by Ramandeep Singh; Gurjit Kaur; Babu R. Thapa; Rajendra Prasad

Book ID
107599039
Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
114 KB
Volume
78
Category
Article
ISSN
0019-5456

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Identification of mutations in the galac
Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y
โœ Volkan Seyrantepe; Meral Ozguc; Turgay Coskun; Imran Ozalp; Juergen KV Reichardt ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 42 KB ๐Ÿ‘ 2 views

Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84 % of all mutant alleles were identified in this