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A splice site mutation in the human glucagon receptor gene abolishes function and causes pancreaticβ-cell hyperplasia and hyperglucagonemia

✍ Scribed by Erica Nishimura; Lars H. Hansen; Etienne Larger; Richard W. Gelling; Jean-Claude Chaput; Christiane Vissuzaine; Jacqueline Capeau; Carolyn Deacon; Jens J. Holst; Ole D. Madsen; Fumiatsu Yakushiji; Pierre De Meyts; Roger Assan

Book ID
117348457
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
113 KB
Volume
94
Category
Article
ISSN
0167-0115

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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in