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Article

A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.

Pigment cell & melanoma research - 1 Nov 2021

Zhong Zilin, Wu Zhuanbin, Zhang Jun, Chen Jianjun

Abstract excerpt

Hermansky-Pudlak Syndrome (HPS) cases present with a variable degree of OCA and bleeding tendency. HPS is categorized into eleven types based on eleven causative genes, and disease severity varies among different types. By whole-exome sequencing performed on a family trio and Sanger sequencing of candidate variants, we identified a novel homozygous variant (NM_201280.3: c.181delC, p.Val61*) in BLOC1S5 in the...

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Identifiers

PMID: 34058075
DOI: 10.1111/pcmr.12995

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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