PMID: 12384503

Saint-Georges Y, Bonnefoy N, di Rago JP, Chiron S, Dujardin G
A pathogenic cytochrome b mutation reveals new interactions between subunits of the mitochondrial bc1 complex.
J Biol Chem. 2002 Dec 20;277(51):49397-402. Epub 2002 Oct 15., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCC8 p.Gly251Asp
X
ABCC8 p.Gly251Asp 12384503:28:112
status: NEW
view ABCC8 p.Gly251Asp details
 In particular, one mutation that substitutes a glycine by an aspartate residue at position 251 of cytochrome b (G251D) is associated with a histiocytoid cardiomyopathy (16, 17). Login to comment