ABCC6 p.His475Leu
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PMID: 18347285
[PubMed]
Martin L et al: "Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE."
No.
Sentence
Comment
74
A single ABCC6 mutation was found (c.1424A→T, p.His475Leu) in this sporadic case.
X
ABCC6 p.His475Leu 18347285:74:55
status: NEW