Two new class III G6PD variants [G6PD Tunis (c.920A>C: P.307Gln>Pro) and G6PD Nefza (c.968T>C: P.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

Blood Cells, Molecules, and Diseases

Volumn 50, Issue 2, 2013, Pages 110-114

  Benmansour, Ikbel ^a   Moradkhani, Kamran ^b,c   Moumni, Imen ^a   Wajcman, Henri ^c   Hafsia, Raouf ^d   Ghanem, Abderraouf ^e   Abbès, Salem ^a   Préhu, Claude ^b,c  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b HENRI MONDOR HOSPITAL   (France)

^c INSERM U955   (France)

^d Hopital Aziza Othmana   (Tunisia)

^e Service de biologie clinique   (Tunisia)

Author keywords

G6PD deficiency; G6PD mutations; G6PD Nefza; G6PG Tunis

Indexed keywords

ALANINE; CYSTEINE; DNA; ENZYME VARIANT; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTAMINE; GLYCINE; LEUCINE; PROLINE; THREONINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; FAMILY HISTORY; FEMALE; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYSIS; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN JAUNDICE; PATIENT REFERRAL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPECTROPHOTOMETRY; TUNISIA; VICIA FABA;

ADOLESCENT; ADULT; EXONS; FAVISM; FEMALE; GENE FREQUENCY; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; INFANT, NEWBORN; JAUNDICE, NEONATAL; MALE; METHEMOGLOBINEMIA; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ANALYSIS, DNA; TUNISIA;

VICIA FABA;

EID: 84871988831     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.08.005     Document Type: Article

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