Associated Papers
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2010
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.
López-Garrido MP et al.
Clinical Genetics, 2010
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.
López-Garrido MP et al.
Clinical Genetics, 2009
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
López-Garrido MP et al.
Molecular Vision, 2006
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