A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

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作者： Saud,Al-Johani ^[1] ; Abdulelah,Alabdullah ^[2] ; Sawsan R,Nowilaty ^[2]

作者单位： Department of Ophthalmology, Imam Abdulrhman Bin Faisal University, Dammam, Kingdom of Saudi Arabia. ^[1] King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia. ^[2]

关键词 DHX38 Gene mutation renitis pigmentosa

主题词儿童(Child);DEAD-box RNA解旋酶类(DEAD-box RNA Helicases);人类(Humans);色素沉着过多(Hyperpigmentation);突变, 误义(Mutation, Missense);系谱(Pedigree);视网膜(Retina);色素性视网膜炎(Retinitis Pigmentosa);沙特阿拉伯(Saudi Arabia);体层摄影术, 光学相干(Tomography, Optical Coherence)

DOI 10.4103/meajo.meajo_40_21

PMID 35719279

发布时间 2022-07-16

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Middle East African journal of ophthalmology

260-262页

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A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

Middle East African journal of ophthalmology

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Middle East African journal of ophthalmology

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A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

Middle East African journal of ophthalmology

相似文献

Middle East African journal of ophthalmology

相关期刊

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