Two New α1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [α28(B9)Ala→Val] and Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys]

Hemoglobin

Volumn 34, Issue 2, 2010, Pages 123-126

  Phylipsen, Marion ^a   Prior, John F ^b   Lim, Erna ^b   Lingam, Neela ^b   Finlayson, Jill ^b   Arkesteijn, Sandra G J ^a   Harteveld, Cornelis L ^a   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SIR CHARLES GAIRDNER HOSPITAL   (Australia)

Author keywords

Gene; Abnormal hemoglobin (Hb)

Indexed keywords

BETA GLOBIN; GLYCOSYLATED HEMOGLOBIN; HEMOGLOBIN NEDLANDS; HEMOGLOBIN QUEENS PARK; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG; ALPHA GLOBIN;

ADULT; AGED; ALPHA THALASSEMIA; ALPHA1 GLOBIN GENE; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GLOBIN GENE; HUMAN; IRON DEFICIENCY ANEMIA; MALE; POINT MUTATION; COHORT ANALYSIS; DNA SEQUENCE; ETHNOLOGY; GENETICS; GREECE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ISOLATION AND PURIFICATION; MISSENSE MUTATION; MYANMAR; POLYMERASE CHAIN REACTION;

ADULT; AGED; ALPHA-GLOBINS; ALPHA-THALASSEMIA; AMINO ACID SUBSTITUTION; ANEMIA, HYPOCHROMIC; AUSTRALIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COHORT STUDIES; GREECE; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MUTATION, MISSENSE; MYANMAR; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; WESTERN AUSTRALIA;

EID: 77950545115     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630261003679854     Document Type: Article

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