Alpha128 Arg-->Ser (CGT-->AGT) spectrin mutation associated with severe neonatal elliptopoikilocytosis in Spain.

Corrons, J L; Pujades, A; Alvarez, R; Estella, J; Dhermy, D

Corrons, J L; Pujades, A; Alvarez, R; Estella, J; Dhermy, D.

Haematologica ; 86(5): 537-8, 2001 May.

Article in En | MEDLINE | ID: mdl-11410419

Subject(s)

Elliptocytosis, Hereditary/genetics; Point Mutation; Spectrin/genetics; Anemia, Hemolytic/diagnosis; Anemia, Hemolytic/etiology; Anemia, Hemolytic/genetics; Diagnosis, Differential; Elliptocytosis, Hereditary/diagnosis; Elliptocytosis, Hereditary/etiology; Erythrocytes/pathology; Family Health; Female; Humans; Infant, Newborn; Mutation, Missense; Pedigree; Spain

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Collection: 01-internacional Database: MEDLINE Main subject: Spectrin / Point Mutation / Elliptocytosis, Hereditary Type of study: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limits: Female / Humans / Newborn Country/Region as subject: Europa Language: En Journal: Haematologica Year: 2001 Document type: Article Country of publication: Italy

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