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...

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Detalles Bibliográficos
Autores principales: Sun, Yanbo, Wang, Pingyu, Li, Youjie, Jiao, Fei, Li, Zunling, Ma, Ying, Li, Wei, Xie, Shuyang
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Human and Medical Genetics
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

Internet

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

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