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Article

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

Blood - 1 Jul 2006

Jung Johannes, Bohn Georg, Allroth Anna, Boztug Kaan, Brandes Gudrun, Sandrock Inga, Schäffer Alejandro A, Rathinam Chozhavendan, Köllner Inga, Beger Carmela, Schilke Reinhard, Welte Karl, Grimbacher Bodo, Klein Christoph

Abstract excerpt

We report on the molecular etiology of an unusual clinical phenotype associating congenital neutropenia, thrombocytopenia, developmental delay, and hypopigmentation. Using genetic linkage analysis and targeted gene sequencing, we defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus...

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Identifiers

PMID: 16537806
DOI: 10.1182/blood-2005-11-4377
PMCID: PMC1895843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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