PMID: 11444963

Biswas EE
Nucleotide binding domain 1 of the human retinal ABC transporter functions as a general ribonucleotidase.
Biochemistry. 2001 Jul 27;40(28):8181-7., [PubMed]
Sentences
No. Mutations Sentence Comment
34 ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 11444963:34:57
status: NEW
view ABCA4 p.Leu2027Phe details
 Site-directed mutagenesis was then used to introduce the Leu2027Phe mutation, which is genetically linked to Stargardt macular degeneration, into the recombinant polypeptide. Login to comment