PMID: 12615648

Zuchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schroder JM
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.
Brain. 2003 Apr;126(Pt 4):920-7., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCA1 p.Arg909*
X
ABCA1 p.Arg909* 12615648:7:55
status: NEW
view ABCA1 p.Arg909* details
 This mutation results in a stop codon at position 909 (R909X) leading to premature termination of translation. Login to comment 97 ABCA1 p.Arg909*
X
ABCA1 p.Arg909* 12615648:97:95
status: NEW
view ABCA1 p.Arg909* details
 This base substitution predicts the replacement of arginine with a stop codon at position 909 (R909X), resulting in premature termination of the mRNA translation. Login to comment