P Gene Mutations in Patients with Oculocutaneous Albinism and Findings Suggestive of Hermansky-Pudlak Syndrome
Overview
Affiliations
Ma Q, Wang W J Med Case Rep. 2024; 18(1):624.
PMID: 39695711 PMC: 11654439. DOI: 10.1186/s13256-024-04991-5.
Ang K, Canfield V, Foster T, Harbaugh T, Early K, Harter R Elife. 2023; 12.
PMID: 37294081 PMC: 10371226. DOI: 10.7554/eLife.77514.
Chwala W, Pogwizd P, Rydzik L, Ambrozy T Int J Environ Res Public Health. 2021; 18(21).
PMID: 34770194 PMC: 8582811. DOI: 10.3390/ijerph182111680.
An intracellular anion channel critical for pigmentation.
Bellono N, Escobar I, Lefkovith A, Marks M, Oancea E Elife. 2014; 3:e04543.
PMID: 25513726 PMC: 4270065. DOI: 10.7554/eLife.04543.
Relationship between foveal cone specialization and pit morphology in albinism.
Wilk M, McAllister J, Cooper R, Dubis A, Patitucci T, Summerfelt P Invest Ophthalmol Vis Sci. 2014; 55(7):4186-98.
PMID: 24845642 PMC: 4098060. DOI: 10.1167/iovs.13-13217.