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

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

Abstract 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 unde...

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Bibliographic Details
Main Authors: Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu, Qiulan Ding
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
FXIII deficiency
F13A1
Large deletion
Genomic rearrangement
Online Access:http://link.springer.com/article/10.1186/s13023-019-1144-z

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http://link.springer.com/article/10.1186/s13023-019-1144-z

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