Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters









Database
Language
Publication year range
1.
A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.
Noguera, N I; González, F A; Dávoli, R A; Milani, A C; Villegas, A.
Hemoglobin ; 25(3): 311-5, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11570724

ABSTRACT

A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.


Subject(s)
Globins/genetics , Point Mutation , RNA Splice Sites/genetics , alpha-Thalassemia/genetics , Adult , Aged , Argentina , Base Sequence , Child , Family Health , Female , Hematologic Tests , Humans , Male , Phenotype
SEND TO:
Email
Export
Print
RSS
XML
SELECTION OF CITATIONS
SEARCH DETAIL