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  • 1-10 ل  72 نتائج ل ""Albinism, Oculocutaneous""

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Academic Journal

Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase.

  • Authors : Wachamo SA; National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Patel MH

Subjects: Mutation* ; Phenotype* ; Temperature*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 21; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

  • Authors : Johanson HC; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.; Chen W

Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/epidemiology ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/pathology

  • Source: Journal of human genetics [J Hum Genet] 2010 Feb; Vol. 55 (2), pp. 103-11. Date of Electronic Publication: 2009 Dec 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.

  • Authors : Zahed L; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. .; Zahreddine H

Subjects: Phenotype*; Albinism, Oculocutaneous/Albinism, Oculocutaneous/Albinism, Oculocutaneous/*genetics ; Monophenol Monooxygenase/Monophenol Monooxygenase/Monophenol Monooxygenase/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2005; Vol. 50 (6), pp. 317-319. Date of Electronic Publication: 2005 Jun 04.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium

Subjects: Resource; iPSC; genetic structures

  • Source: Stem Cell Reports

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Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Subjects: Adult; Male; genetic variant

  • Source: Acta Chimica Slovenica, Vol 68, Iss 3, Pp 683-692 (2021)

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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

Subjects: Adult; Male; 0301 basic medicine

  • Source: Ophthalmic Genetics. 42:230-238

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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

Subjects: Adult; Male; Fovea Centralis

  • Source: Kruijt, C C, Gradstein, L, Bergen, A A, Florijn, R J, Arveiler, B, Lasseaux, E, Zanlonghi, X, Bagdonaite-Bejaran, L, Fulton, A B, Yahalom, C, Blumenfeld, A, Perez, Y, Birk, O S, de Wit, G C,

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Albinism: An Underdiagnosed Condition

Subjects: Heterozygote; medicine.medical_specialty; [SDV]Life Sciences [q-bio]

  • Source: Journal of Investigative DermatologyJournal of Investigative Dermatology, Nature Publishing Group, 2020, 140, pp.1449-1451. ⟨10.1016/j.jid.2019.12.010⟩

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Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6

Subjects: Male; 0301 basic medicine; Nitisinone

  • Source: Pigment Cell Melanoma Res

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis

Subjects: Genetic Markers; 0301 basic medicine; medicine.medical_specialty

  • Source: Pigment Cell & Melanoma Research

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  • 1-10 ل  72 نتائج ل ""Albinism, Oculocutaneous""