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Article

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

22 Nov 2018

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30472485
DOI: 10.1016/j.ejmg.2018.11.017

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Related research

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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorderPMID 30472485Read ↗

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.Semantic proximity Read ↗

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Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: Mutation update.Semantic proximity Read ↗

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.Semantic proximity Read ↗

Non-syndromic dominant DFNA1.Semantic proximity Read ↗

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.Semantic proximity Read ↗

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.Semantic proximity Read ↗

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.Semantic proximity Read ↗

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.Semantic proximity Read ↗

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