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

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Hematology 2006
Assuntos:
Phagocytes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895843/
https://ncbi.nlm.nih.gov/pubmed/16537806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-11-4377
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