Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency Anemia patients and genotype-phenotype studies

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1321-1329

  de Falco, Luigia ^a   Silvestri, Laura ^b   Kannengiesser, Caroline ^c,d,e   Morán, Erica ^f,g   Oudin, Claire ^c,d   Rausa, Marco ^b   Bruno, Mariasole ^a   Aranda, Jessica ^f,g   Argiles, Bienvenida ^h   Yenicesu, Idil ⁱ   Falcon Rodriguez, Maria ^j   Yilmaz Keskin, Ebru ⁱ   Kocak, Ulker ⁱ   Beaumont, Carole ^e   Camaschella, Clara ^b   Iolascon, Achille ^a,k   Grandchamp, Bernard ^c,d,e   Sanchez, Mayka ^e,g  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c BICHAT HOSPITAL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e CENTRE DE RECHERCHE SUR L INFLAMMATION   (France)

^f Institute of Predictive and Personalized Medicine of Cancer (IMPPC   (Spain)

^g JOSEP CARRERAS LEUKAEMIA RESEARCH INSTITUTE IJC   (Spain)

^h HOSPITAL UNIVERSITARIO LA FE   (Spain)

ⁱ GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^j Hospital Universitario Materno Infantil de Canarias   (Spain)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

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Author keywords

Functional studies; Genotype phenotype; IRIDA; Iron refractory anemia; TMPRSS6

Indexed keywords

HEPCIDIN; IRON; MATRIPTASE; MATRIPTASE 2; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; SERINE PROTEINASE; TMPRSS6 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ETHNIC GROUP; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; INFANT; IRON DEFICIENCY ANEMIA; IRON REFRACTORY IRON DEFICIENCY ANEMIA; ITALY; MALE; MICROCYTOSIS; MISSENSE MUTATION; NONSENSE MUTATION; PROTEIN DEGRADATION; SPLICING DEFECT; TMPRSS6 GENE; TREATMENT RESPONSE; ADULT; ANEMIA, IRON-DEFICIENCY; CHEMISTRY; GENE LOCUS; GENE ORDER; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; METABOLISM; MUTATION; PHENOTYPE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ANEMIA, IRON-DEFICIENCY; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC VARIATION; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84918579272     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22632     Document Type: Article

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