Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-Philadelphia/Duarte α (2) (68Asn→Lys) β (2) (62Ala→Pro))

We report the first case of cosegregation of two haemoglobins (Hbs): HbG-Philadelphia [α68(E17)Asn → Lys] and HbDuarte [β62(E6)Ala → Pro]. The proband is a young patient heterozygous also for β°-thalassaemia. We detected exclusively two haemoglobin variants: HbDuarte and HbG-Philadelphia/Duarte. Fun...

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Detalles Bibliográficos
Autores principales: Fais, Antonella, Casu, Mariano, Ruggerone, Paolo, Ceccarelli, Matteo, Porcu, Simona, Era, Benedetta, Anedda, Roberto, Sollaino, Maria Carla, Galanello, Renzo, Corda, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scholarly Research Network 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198610/
https://www.ncbi.nlm.nih.gov/pubmed/22084702
http://dx.doi.org/10.5402/2011/735314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198610/
https://www.ncbi.nlm.nih.gov/pubmed/22084702
http://dx.doi.org/10.5402/2011/735314

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