NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum

Human Mutation

Volumn 35, Issue 2, 2014, Pages 178-186

  Bouchireb, Karim ^a,b   Boyer, Olivia ^a,b   Gribouval, Olivier ^a,b   Nevo, Fabien ^a,b   Huynh Cong, Evelyne ^a,b   Morinière, Vincent ^a   Campait, Raphaëlle ^a   Ars, Elisabet ^c   Brackman, Damien ^d   Dantal, Jacques ^e   Eckart, Philippe ^f   Gigante, Maddalena ^g   Lipska, Beata S ^h   Liutkus, Aurélia ⁱ   Megarbane, André ^j   Mohsin, Nabil ^k   Ozaltin, Fatih ^l   Saleem, Moin A ^m   Schaefer, Franz ⁿ   Soulami, Kenza ^o   Torra, Roser ^c   Garcelon, Nicolas ^a   Mollet, Géraldine ^a,b   Dahan, Karin ^p   Antignac, Corinne ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e HÔTEL DIEU   (France)

^f CAEN UNIVERSITY HOSPITAL   (France)

^g UNIVERSITY OF FOGGIA   (Italy)

^h MEDICAL UNIVERSITY OF GDANSK   (Poland)

ⁱ HOSPICES CIVILS DE LYON   (France)

^j SAINT JOSEPH UNIVERSITY   (Lebanon)

^k ROYAL HOSPITAL   (Oman)

^l HACETTEPE UNIVERSITY   (Turkey)

^m UNIVERSITY OF BRISTOL   (United Kingdom)

ⁿ UNIVERSITY OF HEIDELBERG   (Germany)

^o IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^p UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

more..

Author keywords

FSGS; NPHS2; Podocin; Steroid resistant nephrotic syndrome

Indexed keywords

PODOCIN;

ARTICLE; CODING; COHORT ANALYSIS; CONGENITAL NEPHROTIC SYNDROME; DNA SPLICING; END STAGE RENAL DISEASE; ETHNICITY; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC DATABASE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; KIDNEY TRANSPLANTATION; MISSENSE MUTATION; MOLECULAR EVOLUTION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PREDICTION; PREVALENCE; PRIORITY JOURNAL; RECURRENT DISEASE; STOP CODON;

FSGS; NPHS2; PODOCIN; STEROID-RESISTANT NEPHROTIC SYNDROME;

ADULT; AGE OF ONSET; ANIMALS; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; GENETIC VARIATION; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84891958291     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22485     Document Type: Article

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