CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION

PURPOSE: To investigate the Stargardt disease phenotype associated with an unusually common and “extremely hypomorphic” ABCA4 variant, p.N1868I. METHODS: The charts of 27 patients with p.N1868I on one allele and a severe/deleterious mutation on the other allele were reviewed. Subjective age of onset...

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Bibliografiska uppgifter
I publikationen:Retina
Huvudupphovsmän: COLLISON, FREDERICK T., LEE, WINSTON, FISHMAN, GERALD A., PARK, JASON C., ZERNANT, JANA, McANANY, J. JASON, ALLIKMETS, RANDO
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6548695/
https://ncbi.nlm.nih.gov/pubmed/30204727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IAE.0000000000002316
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