ABCC8 p.Gly251Asp
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PMID: 12384503
[PubMed]
Saint-Georges Y et al: "A pathogenic cytochrome b mutation reveals new interactions between subunits of the mitochondrial bc1 complex."
No.
Sentence
Comment
28
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).
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ABCC8 p.Gly251Asp 12384503:28:112
status: NEW