Hb St. Jozef, a Val→Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in cis with a -α3.7 thalassemia deletion

Hemoglobin

Volumn 31, Issue 3, 2007, Pages 313-323

  Harteveld, Cornelis L ^a   Versteegh, Florens G A ^b   Van Leer, Eduard H G ^b   Starreveld, Jaap S ^b   Kok, Peter J M J ^b   Van Rooijen Nijdam, Irene ^b   Van Delft, Peter ^a   Zanella Cleon, Isabelle ^c   Becchi, Michel ^c   Wajcman, Henri ^d   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GROENE HART HOSPITAL   (Netherlands)

^c INSTITUT DE BIOLOGIE ET CHIMIE DES PROTÉINES   (France)

^d HENRI MONDOR HOSPITAL   (France)

Author keywords

Chain; Abnormal hemoglobin (Hb); N terminal processing; Thalassemia

Indexed keywords

GLOBIN; HEMOGLOBIN A; HEMOGLOBIN VARIANT; LEUCINE; METHIONINE; UNCLASSIFIED DRUG; VALINE; ZINC DERIVATIVE; ZINC PROTOPORPHYIRIN;

ACETYLATION; ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CAPILLARY ELECTROPHORESIS; CASE REPORT; ELECTROPHORESIS; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; GENE DELETION; GENE SEQUENCE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYBRID GENE; IRON DEFICIENCY ANEMIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

ACETYLATION; AMINO ACID SUBSTITUTION; CHILD; FAMILY HEALTH; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; METHIONINE; MUTATION; SEQUENCE DELETION; THALASSEMIA;

EID: 34547161963     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701459473     Document Type: Article

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