Molecular diagnosis of HFE mutations in routine laboratories Results of a survey from reference laboratories in France;Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE* Synthèse d'une enquête réalisée auprès du réseau national des laboratoires pratiquant le diagnostic de maladies rares du métabolisme du fer

Annales de Biologie Clinique

Volumn 70, Issue 3, 2012, Pages 305-313

  Jouanolle, Anne Marie ^a   Gérolami, Victoria ^b   Ged, Cécile ^c   Grandchamp, Bernard ^d   Gac, Gérald Le ^e   Pissard, Serge ^f   Rochette, Jacques ^g   Aguilar Martinez, Patricia ^h  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b HÔPITAL DE LA CONCEPTION   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

^d BICHAT HOSPITAL   (France)

^e UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^f HENRI MONDOR HOSPITAL   (France)

^g AMIENS UNIVERSITY HOSPITAL   (France)

^h HÔPITAL SAINT ELOI   (France)

Author keywords

Diagnosis; Hemochromatosis; HFE; Iron; Mutation

Indexed keywords

HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

COMPARATIVE STUDY; DIAGNOSTIC TEST; EVALUATION; FRANCE; GENETICS; HEMOCHROMATOSIS; HOSPITAL LABORATORY; HUMAN; INFORMATION PROCESSING; INFORMED CONSENT; METHODOLOGY; MOLECULAR DIAGNOSIS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; REVIEW; STANDARD; STATISTICS;

CONSENT FORMS; DATA COLLECTION; DIAGNOSTIC TESTS, ROUTINE; DNA MUTATIONAL ANALYSIS; FRANCE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; LABORATORIES, HOSPITAL; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; REFERENCE STANDARDS;

EID: 84861036360     PISSN: 00033898     EISSN: 19506112     Source Type: Journal    
DOI: 10.1684/abc.2012.0704     Document Type: Review

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