ABCA4 p.Val2244Ile
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PMID: 12054535
[PubMed]
Buechler C et al: "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex."
No.
Sentence
Comment
85
(1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513 causing a premature stop and Tangier disease [20].
X
ABCA4 p.Val2244Ile 12054535:85:135
status: NEW84 (1) R2144X causing the Tangier disease [32]; (2) P2151L rare single nucleotide polymorphism (own unpublished results); (3) F2163S; (5) V2244I associated with low HDL, hypertrophic cardiomyopathy, and disturbed glucose metabolism; (4) 4 bp insertion at nucleotide 6513 causing a premature stop and Tangier disease [20].
X
ABCA4 p.Val2244Ile 12054535:84:135
status: NEW