Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2188-2193

  Zhang, Yanqin ^a   Wang, Fang ^a   Ding, Jie ^a   Zhang, Hongwen ^a   Zhao, Dan ^a   Yu, Lixia ^a   Xiao, Huijie ^a   Yao, Yong ^a   Zhong, Xuhui ^a   Wang, Suxia ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Autosomal recessive Alport syndrome; Genotype phenotype correlation; Mutation; Type IV collagen

Indexed keywords

CAPTOPRIL; GENOMIC DNA; LOSARTAN;

ADOLESCENT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHINESE; CLINICAL ARTICLE; COL4A3 GENE; COL4A4 GENE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMATURIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INFRAME DELETION; KIDNEY DISEASE; LEUKOCYTE; MALE; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; PURE TONE AUDIOMETRY; SCHOOL CHILD;

ADOLESCENT; ADULT; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; CHINA; COLLAGEN TYPE IV; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION; NEPHRITIS, HEREDITARY; PHENOTYPE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84865561492     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35528     Document Type: Article

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