טוען...
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational H...
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| Main Authors: | , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Society of Hematology
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3448561/ https://ncbi.nlm.nih.gov/pubmed/22529292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-04-422253 |
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