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Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2

✍ Scribed by Nabil Moghrabi; Douglas J. Clarke; Maureen Boxer; Brian Burchell


Book ID
115611815
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
260 KB
Volume
18
Category
Article
ISSN
0888-7543

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A de novo G+1 β†’ a mutation at the Ξ±2(I)
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Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained