Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

BACKGROUND: Inherited Factor XIII deficiency (FXIIID) is one of the most severe and under-diagnosed rare bleeding disorders. Only 5 large deletions involving one or more exons in F13A1 have been reported, and lacking of multiplex ligation-dependent probe amplification (MLPA) assay might underestimat...

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Detalles Bibliográficos
Autores principales: Ma, Siyu, Chen, Changming, Liang, Qian, Wu, Xi, Wang, Xuefeng, Wu, Wenman, Liu, Yan, Ding, Qiulan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657060/
https://www.ncbi.nlm.nih.gov/pubmed/31340840
http://dx.doi.org/10.1186/s13023-019-1144-z

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