A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay

Blood Cells, Molecules, and Diseases

Volumn 53, Issue 3, 2014, Pages 138-143

  Padula, Maria Carmela ^a   Martelli, Giuseppe ^a   Larocca, Marilena ^a   Rossano, Rocco ^a   Olivieri, Attilio ^b  

^a UNIVERSITY OF BASILICATA   (Italy)

^b OSPEDALI RIUNITI   (Italy)

Author keywords

Hemochromatosis; HFE; Mutations; Nonsense mediated mRNA decay (NMD); Premature translation termination codon (PTC)

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; DNA EXTRACTION; DOWN REGULATION; EXON; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HFE GENE; HOMOZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON METABOLISM; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; UNTRANSLATED REGION; AGED; AMINO ACID SEQUENCE; BLOOD; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HOMOZYGOTE; METABOLISM; MOLECULAR GENETICS; MUTATION; PROTEIN CONFORMATION; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

FERRITIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; STOP CODON;

ADULT; AGED; AMINO ACID SEQUENCE; CODON, NONSENSE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FERRITINS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NONSENSE MEDIATED MRNA DECAY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; RETROSPECTIVE STUDIES;

EID: 84904768691     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.04.010     Document Type: Article

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