A novel mutation of the β-globin gene promoter (-102 C>A) and pitfalls in family screening

American Journal of Hematology

Volumn 82, Issue 12, 2007, Pages 1088-1090

  Aguilar Martinez, Patricia ^a,d   Jourdan, Eric ^b   Brun, Sophie ^b   Cunat, Séverine ^a   Giansily Blaizot, Muriel ^a   Pissard, Serge ^c   Schved, Jean François ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b NÎMES UNIVERSITY HOSPITAL   (France)

^c HENRI MONDOR HOSPITAL   (France)

^d HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN;

ADOLESCENT; ARTICLE; BETA THALASSEMIA; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ERROR; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HUMAN; IRON OVERLOAD; MICROCYTIC ANEMIA; PHENOTYPE; PRIORITY JOURNAL; RETICULOCYTOSIS; SCREENING TEST;

ADOLESCENT; FAMILY; FEMALE; GENETIC SCREENING; GLOBINS; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REPRODUCIBILITY OF RESULTS;

EID: 36749039688     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21000     Document Type: Article

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