Associated Papers
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH et al.
Journal of Clinical Laboratory Analysis, 2022
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
Functional in silico analysis of human tyrosinase and OCA1 associated mutations.
Patel M et al.
Journal of Analytical & Pharmaceutical Research, 2020
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
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