Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A novel thalassemic hemoglobin variant

Hemoglobin

Volumn 31, Issue 3, 2007, Pages 375-378

  Amato, Antonio ^a   Cappabianca, Maria Pia ^a   Ponzini, Donatella ^a   Rinaldi, Silvana ^a   Biagio, Paola Di ^a   Foglietta, Enrica ^a   Grisanti, Paola ^a   Mastropietro, Fabrizio ^a  

^a Associazione Nazionale Microcitemie Italia ANMI ONLUS   (Italy)

Author keywords

Thalassemia (thal); Hemoglobin (Hb) variants; Splicing region

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN L'AQUILA; HEMOGLOBIN VARIANT; LEUCINE; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; CASE REPORT; CATION EXCHANGE; CODON; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE MUTATION; GLOBIN SYNTHESIS; HEMATOLOGICAL PARAMETERS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IRON DEFICIENCY ANEMIA; MALE; RNA SPLICING;

ADULT; AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; PEDIGREE; POINT MUTATION;

AQUILA;

EID: 34547191227     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701462055     Document Type: Article

References (5)

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