Article
The Tunisian population history through the Crigler-Najjar type I syndrome.
European journal of human genetics : EJHG - 1 Jul 2008
Petit François M, Bézieau Stéphane, Gajdos Vincent, Parisot Frédéric, Scoul Catherine, Capel Liliane, Stozinic Volodia, Khrouf Naïma, M'Rad Ridha, Koshy Abraham, Mollet-Boudjemline Alix, Francoual Jeanne, Labrune Philippe
Abstract excerpt
Crigler-Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation - c.1070A>G in exon 3 - was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two Kuwaiti Bedouin families has called the Tunisian founder effect in question again. To determine the origin of this mutation, 21 Tunisian and 2 Kuwaiti Bedouin CN-I patients...
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