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First report of the mutational and phenotypic spectrum of Hereditary Spherocytosis in Indian patients by targeted resequencing

Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by the presence of microspherocytes. The pathogenesis involves defects in any of the several genes coding for membrane proteins that link the membrane skeleton to the overlying lipid bilayer. Membrane proteins include...

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Main Authors: Anu Aggarwal, Manu Jamwal, Prashant Sharma, Man Updesh Singh Sachdeva, Pankaj Malhotra, Deepak Bansal, Reena Das
Formato: Artigo
Idioma:Inglês
Publicado em: Science Planet Inc. 2017-10-01
Colecção:Canadian Journal of Biotechnology
Acesso em linha:https://www.canadianjbiotech.com/CAN_J_BIOTECH/Archives/v1/Special Issue/cjb.2017-a71.pdf
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