Title of article :
Novel mutations in a Thai patient with methylmalonic academia
Author/Authors :
Champattanachai، Voraratt نويسنده , , Cairns، James R. Ketudat نويسنده , , Shotelersuk، Vorasuk نويسنده , , Keeratichamroen، Siriporn نويسنده , , Sawangareetrakul، Phannee نويسنده , , Srisomsap، Chantragan نويسنده , , Kaewpaluek، Verachai نويسنده , , Svasti، Jisnuson نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2003
Abstract :
A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mul(sup 0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM.
Keywords :
CANCER , metabolism , human , Cellular distribution , Phosphofructokinase
Journal title :
MOLECULAR GENETICS AND METABOLISM
Journal title :
MOLECULAR GENETICS AND METABOLISM
