ABCA4 p.Arg152*
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PMID: 26593885
[PubMed]
Sciezynska A et al: "Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe."
No.
Sentence
Comment
173
A patient carrying exclusively p.R152* and p.V2050L, could have been easily misinterpreted as a compound heterozygote.
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ABCA4 p.Arg152* 26593885:173:33
status: NEW174 Co-occurrence of p.R152* and p.V2050L has been previously noted in Polish patients (M. Krawczynski, unpublished data) and now the existence of the novel complex allele has been definitely confirmed.
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ABCA4 p.Arg152* 26593885:174:19
status: NEW