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Familial congenital cyanosis caused by Hb-M(Yantai)(α-76 GAC → TAC, Asp → Tyr)
Methemoglobin (Hb-M) is a rare hemoglobinopathy in China. We hereby report on a family living in Yantai, East China, with congenital cyanosis due to Hb-M mutation. The proband, a 65-year-old female, presented 63% oxygen saturation. Both Hb-M concentration and arterial oxygen saturation remained unch...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036099/ https://www.ncbi.nlm.nih.gov/pubmed/21637412 http://dx.doi.org/10.1590/S1415-47572010005000058 |