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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.
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