ABCC6 p.Leu677Pro
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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
288
While the correct folding of ABCC7 has been proposed to depend on the integrity of the NBF1 region and its interaction with surrounding domains, particularly the NBF2 domain [Dalemans et al., 1991; Pollet et al., 2000], a similar loss-of-function mechanism can be proposed for ABCC6 mutations (L677P and R760W) within or around NBF1 (R807W and R807Q).
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ABCC6 p.Leu677Pro 16086317:288:294
status: NEW