Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy

Nephrology Dialysis Transplantation

Volumn 26, Issue 12, 2011, Pages 4003-4010

  Ma, Jun ^a   Pan, Xiaoxia ^a   Wang, Zhaohui ^a   Wang, Yingyu ^a   Feng, Xiaobei ^a   Ren, Hong ^a   Zhang, Wen ^a   Chen, Xiaonong ^a   Wang, Weiming ^a   Chen, Nan ^a  

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

Author keywords

Alport syndrome; COL4A5 gene; direct sequencing; skin biopsy

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ALPORT SYNDROME; ARTICLE; CHILD; CHINESE; COL4A5 GENE; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; SKIN; YOUNG ADULT;

EID: 82255185522     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfr184     Document Type: Article

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