Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Nephrology Dialysis Transplantation

Volumn 31, Issue 6, 2016, Pages 961-970

  Gast, Christine ^a,b   Pengelly, Reuben J ^b   Lyon, Matthew ^c   Bunyan, David J ^c   Seaby, Eleanor G ^b   Graham, Nikki ^b   Venkat Raman, Gopalakrishnan ^a   Ennis, Sarah ^b  

^a PORTSMOUTH HOSPITALS NHS TRUST   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Alport disease; FSGS; genetic kidney disease; next generation sequencing

Indexed keywords

COLLAGEN TYPE 4; DNA;

ADULT; ARTICLE; COL4A GENE; COL4A3 GENE; COL4A5 GENE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DIAGNOSTIC TEST; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GLOMERULONEPHRITIS; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; ADOLESCENT; AGED; CHILD; DNA MUTATIONAL ANALYSIS; GENETICS; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIGH THROUGHPUT SEQUENCING; INFANT; METABOLISM; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84975105726     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfv325     Document Type: Article

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