Hb Bronte or α93(FG5)Val→Gly: A new unstable variant of the α2-globin gene, associated with a mild α+-thalassemia phenotype

Hemoglobin

Volumn 27, Issue 3, 2003, Pages 149-159

  Lacerra, Giuseppina ^a   Testa, Rosario ^b   De Angioletti, Maria ^a   Schilirò, Gino ^b   Carestia, Clementina ^a  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

globin gene disorders; + thalassemia (thal); Globin chain biosynthesis; In vitro; Unstable hemoglobin (Hb) variants

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; BILIRUBIN; CARBONATE DEHYDRATASE; GLYCINE; HEMOGLOBIN A; HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN VARIANT; VALINE; GLOBIN; HEMOGLOBIN BRONTE;

ADULT; ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE SEQUENCE; GENETIC STABILITY; GENETIC VARIABILITY; HUMAN; MALE; PHENOTYPE; SCHOOL CHILD; BIOSYNTHESIS; CASE REPORT; CHILD; FAMILY HEALTH; GENETICS; HETEROZYGOTE; MISSENSE MUTATION; PEDIGREE; POINT MUTATION;

ALPHA-THALASSEMIA; CHILD; FAMILY HEALTH; GLOBINS; HEMOGLOBIN A; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; VARIATION (GENETICS);

EID: 0043065328     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120023378     Document Type: Article

References (17)

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