Hereditary fructose intolerance: Functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

Human Mutation

Volumn 31, Issue 12, 2010, Pages 1294-1303

  Esposito, Gabriella ^a,b,c   Imperato, Maria Rosaria ^a   Ieno, Luigi ^a,b   Sorvillo, Rosa ^a,b   Benigno, Vincenzo ^d   Parenti, Giancarlo ^b   Parini, Rossella ^e   Vitagliano, Luigi ^f   Zagari, Adriana ^a,b   Salvatore, Francesco ^a,c  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c IRCCS SDN   (Italy)

^d Ospedale S Giovanni di Dio   (Italy)

^e SAN GERARDO HOSPITAL   (Italy)

^f CNR   (Italy)

Author keywords

ALDOB kinetic analysis; ALDOB molecular modeling; HFI molecular diagnosis; HFI molecular epidemiology; Intragenic deletion; Missense mutations

Indexed keywords

FRUCTOSE BISPHOSPHATE ALDOLASE;

ALLELE; ARTICLE; CASE REPORT; CATALYSIS; CHILD; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS; SYMPTOM;

ALLELES; BASE SEQUENCE; CHILD; CIRCULAR DICHROISM; FATAL OUTCOME; FEMALE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; GENE DELETION; GENE FREQUENCY; HUMANS; INFANT; ITALY; KINETICS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; RECOMBINANT PROTEINS;

EID: 78649595331     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21359     Document Type: Article

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