Publications:

Hermansky-Pudlak syndrome: Mutation update.

Human Mutation

Huizing, Marjan M; Malicdan, May C V MCV; Wang, Jennifer A JA; Pri-Chen, Hadass H; Hess, Richard A RA; Fischer, Roxanne R; O'Brien, Kevin J KJ; Merideth, Melissa A MA; Gahl, William A WA; Gochuico, Bernadette R BR

Publication Date: 2020-03

Variant appearance in text: HPS5: 2624delT

PubMed Link: 31898847

Variant Present in the following documents:

• Main text

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Plos One

Stephen, Joshi J; Yokoyama, Tadafumi T; Tolman, Nathanial J NJ; O'Brien, Kevin J KJ; Nicoli, Elena-Raluca ER; Brooks, Brian P BP; Huryn, Laryssa L; Titus, Steven A SA; Adams, David R DR; Chen, Dong D; Gahl, William A WA; Gochuico, Bernadette R BR; Malicdan, May Christine V MC

Publication Date: 2017

Variant appearance in text: HPS5: 2624delT; Leu875Cysfs*20

PubMed Link: 28296950

Variant Present in the following documents:

• Main text
• pone.0173682.pdf

View BVdb publication page