Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.

Francoual, Jeanne; Rivierre, Armelle; Mokrani, Chahnez; Khrouf, Naïma; Gottrand, Frédéric; Myara, Anne; Le Bihan, Béatrice; Capel, Liliane; Lindenbaum, Albert; Labrune, Philippe

Francoual, Jeanne; Rivierre, Armelle; Mokrani, Chahnez; Khrouf, Naïma; Gottrand, Frédéric; Myara, Anne; Le Bihan, Béatrice; Capel, Liliane; Lindenbaum, Albert; Labrune, Philippe.

Hum Mutat ; 19(5): 570-1, 2002 May.

Article in En | MEDLINE | ID: mdl-11968090

Subject(s)

Amino Acid Substitution/genetics; Arginine/genetics; Crigler-Najjar Syndrome/genetics; Founder Effect; Glutamine/genetics; Monosaccharide Transport Proteins/genetics; Mutation/genetics; Crigler-Najjar Syndrome/epidemiology; Humans; Monosaccharide Transport Proteins/deficiency; Tunisia/epidemiology

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Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Monosaccharide Transport Proteins / Founder Effect / Amino Acid Substitution / Crigler-Najjar Syndrome / Glutamine / Mutation Type of study: Risk_factors_studies Limits: Humans Country/Region as subject: Africa Language: En Journal: Hum Mutat Year: 2002 Document type: Article

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