First description of a frameshift mutation in the alpha1-globin gene associated with alpha-thalassaemia.

Ayala, S; Colomer, D; Aymerich, M; Abella, E; Vives Corrons, J L

Ayala, S; Colomer, D; Aymerich, M; Abella, E; Vives Corrons, J L.

Affiliation

Ayala S; Haematology Laboratory Department, Hospital Clínic i Provincial, University of Barcelona, Spain.

Br J Haematol ; 98(1): 47-50, 1997 Jul.

Article in En | MEDLINE | ID: mdl-9233562

Subject(s)

Frameshift Mutation; Globins/genetics; alpha-Thalassemia/genetics; Aged; Electrophoresis, Polyacrylamide Gel; Exons/genetics; Female; Heterozygote; Humans; Pedigree; Polymerase Chain Reaction; Sequence Analysis

Search on Google

Add to My VHL

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Globins / Frameshift Mutation / Alpha-Thalassemia Type of study: Risk_factors_studies Limits: Aged / Female / Humans Language: En Journal: Br J Haematol Year: 1997 Document type: Article Affiliation country: Spain Country of publication: United kingdom

Search on Google

Add to My VHL

XML

PubMed Links