High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue 10, 2010, Pages 1415-1418

  Castiglioni, Emanuela ^a   Soriani, Nadia ^a   Girelli, Domenico ^b   Camaschella, Clara ^a,c   Spiga, Ivana ^d   Della Porta, Matteo G ^e   Ferrari, Maurizio ^a,c,d   Cremonesi, Laura ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d Diagnostica e Ricerca San Raffaele   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

ferritin light chain gene; hereditary hyperferritinemia cataract syndrome; high resolution melting; iron responsive element

Indexed keywords

ANALYTIC METHOD; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; DNA DETERMINATION; FALSE POSITIVE RESULT; FERRITIN LIGHT CHAIN GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; GENOTYPE; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HYPERFERRITINEMIA; IRON RESPONSIVE ELEMENT; PRIORITY JOURNAL; RELIABILITY; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; WILD TYPE;

APOFERRITINS; CATARACT; DNA; DNA MUTATIONAL ANALYSIS; GENETIC VARIATION; HUMANS; IRON; IRON METABOLISM DISORDERS; MUTATION; NUCLEIC ACID DENATURATION; RESPONSE ELEMENTS; SENSITIVITY AND SPECIFICITY; SYNDROME;

EID: 77958156650     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.281     Document Type: Article

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