The first Chinese Pierson syndrome with novel mutations in LAMB2

Nephrology Dialysis Transplantation

Volumn 25, Issue 3, 2010, Pages 776-778

  Zhao, Dan ^a   Ding, Jie ^a   Wang, Fang ^a   Fan, Qingfeng ^a   Guan, Na ^a   Wang, Suxia ^a   Zhang, Yan ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Autosomal recessive; Genotype; Myosis; Pierson syndrome

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CHINESE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; LAMB2 GENE; MIOSIS; NYSTAGMUS; ONSET AGE; PHENOTYPE; PIERSON SYNDROME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SYNDROME;

CHILD, PRESCHOOL; CHINA; EYE ABNORMALITIES; FEMALE; GENE DELETION; HUMANS; KIDNEY DISEASES; LAMININ; MUTATION; NYSTAGMUS, CONGENITAL; PROTEINURIA; SYNDROME;

EID: 77649194375     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp563     Document Type: Article

References (11)

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