Publications:

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Scientific Reports

Kruijt, C C CC; Schalij-Delfos, N E NE; de Wit, G C GC; Florijn, R J RJ; van Genderen, M M MM

Publication Date: 2021-06-02

Variant appearance in text: SLC45A2: Asp93Asn

PubMed Link: 34078970

Variant Present in the following documents:

• Main text
• 41598_2021_Article_90896.pdf

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Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes

Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S

Publication Date: 2020-12-01

Variant appearance in text: MATP: D93N

PubMed Link: 32333855

Variant Present in the following documents:

• Main text
• main.pdf

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Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular Medicine Reports

Ko, Jung Min JM; Yang, Jung-Ah JA; Jeong, Seon-Yong SY; Kim, Hyon-Ju HJ

Publication Date: 2012-04

Variant appearance in text: SLC45A2: 277G>A

PubMed Link: 22294196

Variant Present in the following documents:

• Main text
• mmr-05-04-0943.pdf

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