ABCC6 p.Glu1234Val
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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
81
He had a single ABCC6 mutation: c.3701A→T (p.Glu1234Val).
X
ABCC6 p.Glu1234Val 18347285:81:52
status: NEW