Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1393-1406

  Gall, Emilie Cornec Le ^a,b,c   Audrézet, Marie Pierre ^a,b,d   Meur, Yannick Le ^b,c   Chen, Jian Min ^a,b,e   Férec, Claude ^a,b,d,e  

^a INSERM   (France)

^b FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d CHU MORVAN   (France)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

ADPKD; Genetic mosaicism; Genotype phenotype correlation; Haploinsufficiency; PKD1; PKD2; Renal cystogenesis; Somatic mutation

Indexed keywords

POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIC KIDNEY DISEASE 2 PROTEIN; POLYCYSTIN;

BIOLOGICAL MODEL; GENETICS; GENOTYPE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MOSAICISM; MUTATION; PHENOTYPE;

GENOTYPE; HUMANS; MODELS, BIOLOGICAL; MOSAICISM; MUTATION; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; TRPP CATION CHANNELS;

EID: 84911447070     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22708     Document Type: Review

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