Associated Papers
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E et al.
Genes, 2022
Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders.
Carey AS et al.
Pediatric Research, 2020
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
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Gul H et al.
Annals of Human Genetics, 2019
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.
Kausar T et al.
The Journal of Investigative Dermatology, 2013
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