(Q38106418)

28 August 2017

title

Albinism in Europe (English)

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28 August 2017

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Mónica Mártinez-García

series ordinal

1

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28 August 2017

Lluís Montoliu

series ordinal

2

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28 August 2017

publication date

1 May 2013

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The Journal of Dermatology

28 August 2017

published in

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28 August 2017

volume

40

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28 August 2017

issue

5

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28 August 2017

page(s)

319-324

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28 August 2017

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Albinism in Africa: Stigma, Slaughter and Awareness Campaigns

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Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

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Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance

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Chédiak-Higashi syndrome: report of a case and review of the Japanese literature

21 January 2018

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The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis

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The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor

21 January 2018

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

21 January 2018

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L-DOPA is an endogenous ligand for OA1

21 January 2018

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Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin

21 January 2018

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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism

21 January 2018

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Chiasmal misrouting and foveal hypoplasia without albinism

21 January 2018

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Albinism: classification, clinical characteristics, and recent findings

21 January 2018

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Melanin precursors prevent premature age-related and noise-induced hearing loss in albino mice

21 January 2018

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L-tyrosine and L-dihydroxyphenylalanine as hormone-like regulators of melanocyte functions

21 January 2018

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AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1).

21 January 2018

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Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer

21 January 2018

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Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism

21 January 2018

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https://api.crossref.org/works/10.1111%2F1346-8138.12170

21 January 2018

Identifiers

DOI

10.1111/1346-8138.12170

1 reference

28 August 2017

1 reference