Ontology highlight
ABSTRACT:
SUBMITTER: Ghodsinejad Kalahroudi V
PROVIDER: S-EPMC4162572 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
PloS one 20140912 9
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects o ...[more]