Associated Papers
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Dolinska MB et al.
Protein Science : a Publication of the Protein Society, 2023
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
32966289 (PubMed )
Supplement: pone.0238529.s003.docx
Clinical and genetic variability in children with partial albinism.
Campbell P et al.
Scientific Reports, 2019
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Marti A et al.
Pigment Cell & Melanoma Research, 2018
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
Kamaraj B et al.
Biomed Research International, 2013
A functional single-nucleotide polymorphism in the human cytidine deaminase gene contributing to ara-C sensitivity.
Yue L et al.
Pharmacogenetics, 2003
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