Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL...

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Publié dans:Nat Genet
Auteurs principaux: Kahr, Walter HA, Hinckley, Jesse, Li, Ling, Schwertz, Hansjörg, Christensen, Hilary, Rowley, Jesse W, Pluthero, Fred G, Urban, Denisa, Fabbro, Shay, Nixon, Brie, Gadzinski, Rick, Storck, Mike, Wang, Kai, Ryu, Gi-Yung, Jobe, Shawn M, Schutte, Brian C, Moseley, Jack, Loughran, Noeleen B, Parkinson, John, Weyrich, Andrew S, Paola, Jorge Di
Format: Artigo
Langue:Inglês
Publié: 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6050511/
https://ncbi.nlm.nih.gov/pubmed/21765413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.884
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