ABCC6 p.Glu125*
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PMID: 16086317
[PubMed]
Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
No.
Sentence
Comment
169
For the pseudogene polymorphisms p.A78Tand p.E125K, which occur at highly conserved amino acid positions of ABCC6, we could not demonstrate novel gene conversion events in our families between ABCC6 and its two known pseudogenes; however, we did unmask a G-to-T nucleotide substitution at position c.373 that resulted in premature termination of the protein at amino acid position 125 (p.E125X).
X
ABCC6 p.Glu125* 16086317:169:388
status: NEW