Article
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.
Heredity - 1 Feb 2010
Flanagan J M, McMahon G, Brendan Chia S H, Fitzpatrick P, Tighe O, O'Neill C, Briones P, Gort L, Kozak L, Magee A, Naughten E, Radomyska B, Schwartz M, Shin J S, Strobl W M, Tyfield L A, Waterham H R, Russell H, Bertorelle G, Reichardt J K V, Mayne P D, Croke D T
Abstract excerpt
Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To be...
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