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一个MYSM1基因突变致骨髓衰竭综合征4型家系报道附文献复习
OBJECTIVE: To report the clinical manifestations and total exon detection results of one case of MYSM1 gene complex heterozygosity mutation of bone marrow failure syndrome 4 and the results of total exon detection of her family to provide a case phenotype for the early diagnosis of bone marrow failu...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
Editorial office of Chinese Journal of Hematology
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071664/ https://www.ncbi.nlm.nih.gov/pubmed/33858043 http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2021.02.007 |