presentation of complex homozygous allele in abca4 gene in a patient with retinitis pigmentosa

presentation of complex homozygous allele in abca4 gene in a patient with retinitis pigmentosa

;Māreta Audere;Katrīna Rutka;Svetlana Šepetiene;Baiba Lāce
hastings center report 2015 Vol. 2015 pp. -
137
audere2015casepresentation

Abstract

Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.

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149148
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10.1155/2015/452068
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