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A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
Bernard–Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the r...
Autores principales: | Kanda, Kenji, Kunishima, Shinji, Sato, Aya, Abe, Daisuke, Nishijima, Setsuko, Ishigami, Tsuyoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529668/ https://www.ncbi.nlm.nih.gov/pubmed/28765788 http://dx.doi.org/10.1038/hgv.2017.30 |
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