Work

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Year: 2019

Type: article

Abstract: Purpose: in Korean patients with inherited retinal dystrophies (IRDs). Methods: through targeted gene panel sequencing and whole exome sequencing. We analyzed the clinical characteristics and phenotypic spectrum according to genotype. Results: RD). Conclusions: -RD and ethnicity-specific variants in East Asians.

Source: PubMed Central

Authors: Kwangsic Joo, Moon-Woo Seong, Kyu Hyung Park, Sung Sup Park, Se Joon Woo

Institutions: Seoul National University, Seoul National University Bundang Hospital, Seoul National University Hospital

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2992870973

FWCI: 1.933

Cites: 25

Cited by: 10

Related to: 10