TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

Nephrology Dialysis Transplantation

Volumn 24, Issue 10, 2009, Pages 3089-3096

  Santín, Sheila ^a   Ars, Elisabet ^a   Rossetti, Sandro ^b   Salido, Eduardo ^c   Silva, Irene ^a   García Maset, Rafael ^a   Giménez, Isabel ^a   Ruíz, Patricia ^a   Mendizábal, Santiago ^d   Nieto, José Luciano ^e   Peña, Antonia ^f   Camacho, Juan Antonio ^g   Fraga, Gloria ^h   Cobo, M Ángeles ^c   Bernis, Carmen ⁱ   Ortiz, Alberto ^j   De Pablos, Augusto Luque ^k   Sánchez Moreno, Ana ^l   Pintos, Guillem ^m   Mirapeix, Eduard ⁿ   Fernández Llama, Patricia ^a   Ballarín, José ^a   Torra, Roser ^a   more..

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b MAYO CLINIC   (United States)

^c HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f HOSPITAL INFANTIL LA PAZ   (Spain)

^g HOSPITAL SANT JOAN DE DÉU   (Spain)

^h HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

ⁱ HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^j Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^k HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^l HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^m HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

ⁿ HOSPITAL CLÍNIC   (Spain)

more..

Author keywords

Focal segmental glomerulosclerosis; In silico scoring system; Missense substitutions; Mutation analysis; TRPC6 gene

Indexed keywords

AMINO ACID; CYCLOSPORIN A; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISONE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADOLESCENT; ADULT; ADULTHOOD; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM TRANSPORT; CHILD; CHILDHOOD; CLINICAL FEATURE; COHORT ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; GLOMERULOPATHY; HEMATURIA; HUMAN; HUMAN TISSUE; IMMUNOSUPPRESSIVE TREATMENT; INFANT; KIDNEY BIOPSY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENICITY; PREECLAMPSIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA; RNA SPLICING; SCHOOL CHILD; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6 GENE; WILD TYPE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; INFANT; MIDDLE AGED; TRPC CATION CHANNELS; YOUNG ADULT;

EID: 70349498771     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp229     Document Type: Article

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