ABCA4 p.Gln1029*
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PMID: 12037008
[PubMed]
Klevering BJ et al: "Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene."
No.
Sentence
Comment
111
A patient with RP who was homozygous for the IVS30ϩ1G3T mutation has been described,12 whereas the Q1029X mutation has not been described.
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ABCA4 p.Gln1029* 12037008:111:105
status: NEW