ABCA4 p.Arg107*
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PMID: 20696155
[PubMed]
Burke TR et al: "Loss of peripapillary sparing in non-group I Stargardt disease."
No.
Sentence
Comment
166
Both of these patients had a frame-shifting deletion, 4537delC, in the ABCA4 gene on one chromosome and previously not reported R107X non-sense mutation on the other chromosome.
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ABCA4 p.Arg107* 20696155:166:128
status: NEW165 Both of these patients had a frame-shifting deletion, 4537delC, in the ABCA4 gene on one chromosome and previously not reported R107X non-sense mutation on the other chromosome.
X
ABCA4 p.Arg107* 20696155:165:128
status: NEW