Publications:

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet Journal Of Rare Diseases

Power, Bradley B; Ferreira, Carlos R CR; Chen, Dong D; Zein, Wadih M WM; O'Brien, Kevin J KJ; Introne, Wendy J WJ; Stephen, Joshi J; Gahl, William A WA; Huizing, Marjan M; Malicdan, May Christine V MCV; Adams, David R DR; Gochuico, Bernadette R BR

Publication Date: 2019-02-21

Variant appearance in text: TYR: 1235C>T

PubMed Link: 30791930

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1023.pdf

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