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De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD
BACKGROUND: Von Willebrand disease (VWD) is not uncommon in Taiwan. In type 2 or type 3 VWD hemorrhagic symptoms are severer and laboratory data relatively more distinctive. De novo mutation and somatic mosaicism of type 2 VWD gene were rarely reported. Therefore clinical, laboratory and genetic stu...
Autores principales: | Shen, Ming-Ching, Chen, Ming, Ma, Gwo-Chin, Chang, Shun-Ping, Lin, Ching-Yeh, Lin, Bo-Do, Hsieh, Han-Ni |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056463/ https://www.ncbi.nlm.nih.gov/pubmed/27766062 http://dx.doi.org/10.1186/s12959-016-0092-2 |
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