Evidence of digenic inheritance in alport syndrome

Journal of Medical Genetics

Volumn 52, Issue 3, 2015, Pages 163-174

  Mencarelli, Maria Antonietta ^a,b   Heidet, Laurence ^c   Storey, Helen ^d   Van Geel, Michel ^e   Knebelmann, Bertrand ^c   Fallerini, Chiara ^a   Miglietti, Nunzia ^f   Antonucci, Maria Fatima ^a   Cetta, Francesco ^g   Sayer, John A ^h   Van Den Wijngaard, Arthur ^e   Yau, Shu ^d   Mari, Francesca ^a,b   Bruttini, Mirella ^a,b   Ariani, Francesca ^a,b   Dahan, Karin ⁱ   Smeets, Bert ^e   Antignac, Corinne ^c,j,k   Flinter, Frances ^d   Renieri, Alessandra ^a,b  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d GUY S HOSPITAL   (United Kingdom)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f SPEDALI CIVILI   (Italy)

^g IRCCS MULTIMEDICA   (Italy)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^j INSERM   (France)

^k Inserm U1163   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COL4A3 PROTEIN; COL4A4 PROTEIN; COL4A5 PROTEIN; COLLAGEN TYPE 4; GENOMIC DNA; GLUTAMIC ACID; GLYCINE; PROTEIN; UNCLASSIFIED DRUG; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; COL4A5 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHILD; CHRONIC KIDNEY FAILURE; CODON; DIGENIC INHERITANCE; DISEASE SEVERITY; END STAGE RENAL DISEASE; EXTENDED FAMILY; EYE INJURY; FEMALE; GENOTYPE; HEARING IMPAIRMENT; HEMATURIA; HETEROZYGOSITY; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; STOICHIOMETRY; TRIPLE HELIX; VERY ELDERLY; YOUNG ADULT; GENETIC ASSOCIATION STUDY; GENETICS; KIDNEY; METABOLISM; MUTATION; NEPHRITIS; PATHOLOGY; PEDIGREE;

ADULT; AGED; AUTOANTIGENS; COLLAGEN TYPE IV; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KIDNEY; MALE; MIDDLE AGED; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE;

EID: 84930656052     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102822     Document Type: Article

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