A novel COL4A1 frameshift mutation in familial kidney disease: The importance of the C-terminal NC1 domain of type IV collagen

Nephrology Dialysis Transplantation

Volumn 31, Issue 11, 2016, Pages 1908-1914

  Gale, Daniel P ^a   Oygar, D Deren ^b   Lin, Fujun ^a,c   Oygar, P Derin ^b   Khan, Nadia ^a   Connor, Thomas M F ^d   Lapsley, Marta ^e   Maxwell, Patrick H ^f   Neild, Guy H ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Nalbantoglu Lefkosa Devlet Hastanesi   (Cyprus)

^c SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e ST HELIER HOSPITAL   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

COL4A1; familial nephropathy; genetic renal disease; glomerular basement membrane; type IV collagen

Indexed keywords

COLLAGEN TYPE 4; CREATINE KINASE; COL4A1 PROTEIN, HUMAN; DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN ARTERY ANEURYSM; BRAIN HEMORRHAGE; CARBOXY TERMINAL SEQUENCE; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; COL4A1 GENE; CONTROLLED STUDY; COSEGREGATION ANALYSIS; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; EXOME; EXON; FAMILIAL DISEASE; FAMILIAL KIDNEY DISEASE; FEMALE; FRAMESHIFT MUTATION; GENOME ANALYSIS; HANAC SYNDROME; HEMATURIA; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE CRAMP; MUTATIONAL ANALYSIS; PORENCEPHALY; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; TURKISH CITIZEN; VASCULAR DISEASE; YOUNG ADULT; DNA MUTATIONAL ANALYSIS; GENETIC LINKAGE; GENETICS; GENOTYPE; METABOLISM; NEPHRITIS; PEDIGREE; POLYMERASE CHAIN REACTION;

COLLAGEN TYPE IV; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; NEPHRITIS, HEREDITARY; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 84996598165     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfw051     Document Type: Article

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