A new electrophoretically silent β-globin variant in a portuguese family: Hb viseu [β57(E1)Asn→Thr]

Hemoglobin

Volumn 30, Issue 1, 2006, Pages 23-27

  Frischknecht, Hannes ^a,d   Troxler, Heinz ^b   Forster, Catherine ^c   Dutly, Fabrizio ^a  

^a Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c NONE   (Switzerland)

^d Institute for Medical and Molecular Diagnostics Ltd   (Switzerland)

Author keywords

Globin variant; Electrophoretically silent; Electrospray ionization mass spectrometry (ESI MS)

Indexed keywords

ASPARTIC ACID; BETA GLOBIN; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN VISEU; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; DNA DETERMINATION; ELECTROPHORESIS; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; GENE MUTATION; HUMAN; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY;

ADULT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON, NONSENSE; FEMALE; GENE SILENCING; GLOBINS; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; ISOELECTRIC FOCUSING; MALE; POINT MUTATION; PORTUGAL; SIBLINGS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; VARIATION (GENETICS);

EID: 33645056687     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260500453933     Document Type: Article

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