Hb marineo [β70(E14)Ala→Val]: A silent hemoglobin variant with a mutation within the heme pocket

Hemoglobin

Volumn 30, Issue 2, 2006, Pages 139-148

  Giambona, Antonino ^a,c   Vinciguerra, Margherita ^a   Cassarà, Filippo ^a   Li Muli, Rita ^a   Leto, Filippo ^a   Passarello, Cristina ^a   Wajcman, Henri ^b   Maggio, Aurelio ^a  

^a Azienda Ospedaliera Vincenzo C   (Italy)

^b HENRI MONDOR HOSPITAL   (France)

^c VILLA SOFIA CERVELLO HOSPITAL   (Italy)

Author keywords

Globin chain variant; Cation exchange high performance liquid chromatography (HPLC); DNA sequencing analysis; Hb Marineo; Reversed phase HPLC

Indexed keywords

ALANINE; BETA GLOBIN; HEMOGLOBIN; HEMOGLOBIN MARINEO; UNCLASSIFIED DRUG; VALINE; GLOBIN; HEMOGLOBIN VARIANT;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BETA CHAIN; CATION EXCHANGE; CLINICAL ARTICLE; CODON; FEMALE; GENE MUTATION; HEMOLYTIC ANEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALY; NUCLEOTIDE SEQUENCE; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; GENETICS; HAPLOTYPE; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION;

ADULT; AMINO ACID SUBSTITUTION; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON; DNA MUTATIONAL ANALYSIS; FEMALE; GLOBINS; HAPLOTYPES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA; SICILY;

EID: 33745529208     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260600642005     Document Type: Article

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