Open AccessNovel mutation in OCRL leading to a severe form of Lowe syndrome
Author(s) -
Fengqi Zhou
Publication year - 2019
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2019.07.01
Subject(s) - sanger sequencing , medicine , genetics , phenotype , mutation , exon , genotype , genotype phenotype distinction , genomic dna , gene , biology
To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome.
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