Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease

BMC Nephrology

Volumn 15, Issue 1, 2014, Pages

  Lin, Fujun ^a,b   Bian, Fan ^a   Zou, Jun ^a   Wu, Xiangru ^a   Shan, Jianping ^a   Lu, Wei ^a   Yao, Yao ^a   Jiang, Gengru ^a   Gale, Daniel Philip ^b  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Collagen IV related nephropathies; Misdiagnosis; Novel mutation; Whole exome sequencing

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A3; UNCLASSIFIED DRUG; AUTOANTIGEN; COL6A4P1 PROTEIN, HUMAN; COL6A5 PROTEIN, HUMAN; COLLAGEN TYPE 6; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADULT; ALPORT SYNDROME; ARTICLE; CHINESE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DONOR SITE; END STAGE RENAL DISEASE; FAMILY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; HEMATURIA; HUMAN; INHERITANCE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; MALE; MICROSCOPY; MISSENSE MUTATION; PROGNOSIS; PROLIFERATIVE GLOMERULONEPHRITIS; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CHROMOSOME 2; DNA SEQUENCE; EPIDEMIOLOGY; ETHNOLOGY; EXOME; GENETICS; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MIDDLE AGED; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PROCEDURES; PSEUDOGENE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; X CHROMOSOME LINKED DISORDER; YOUNG ADULT;

AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOANTIGENS; CHINA; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; KIDNEY DISEASES; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PEDIGREE; POINT MUTATION; PSEUDOGENES; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 84920806435     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-15-175     Document Type: Article

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