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Article

The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.

Journal of dermatological science - 1 Nov 2009

Wei Aihua, Lian Shi, Wang Lejin, Li Wei

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19665357
DOI: 10.1016/j.jdermsci.2009.07.007

Genes

HPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.PMID 19665357Read ↗

Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSSemantic proximity Read ↗

Hermansky-Pudlak syndrome type 4 with a novel mutation.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.Semantic proximity Read ↗

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.Semantic proximity Read ↗

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.Semantic proximity Read ↗

Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.Semantic proximity Read ↗

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.Semantic proximity Read ↗

Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.Semantic proximity Read ↗

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.Semantic proximity Read ↗

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.Semantic proximity Read ↗

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