First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family

BACKGROUND: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G > A) is an unstable hemoglobin variant resulting from a β 74 GGC to GAC mutation (Gly to Asp) that manifests clinically as hemolytic anemia or gall bladder disease due to chronic subclinical hemolysis. CASE PRE...

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Detalles Bibliográficos
Autores principales: Paradise, Scott L, Estep, Lauren, Olson, Jordan, Donaldson, Keri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898211/
https://www.ncbi.nlm.nih.gov/pubmed/24428873
http://dx.doi.org/10.1186/1472-6890-14-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898211/
https://www.ncbi.nlm.nih.gov/pubmed/24428873
http://dx.doi.org/10.1186/1472-6890-14-4

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