The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus

Chinese Journal of Medical Genetics

Volumn 25, Issue 1, 2008, Pages 11-14

  Li, Ning Dong ^a   Cui, Li Hong ^b   Wang, Li Ming ^a   Ma, Hui Zhi ^a   Zhang, Li Ling ^c   Yue, Yi Ying ^a   Zhao, Kan Xing ^a,b  

^a TIANJIN EYE HOSPITAL   (China)

^b TIANJIN MEDICAL UNIVERSITY   (China)

^c XI AN CENTRAL HOSPITAL   (China)

Author keywords

Congenital nystagmus; FRMD7 gene; Mutation

Indexed keywords

GENOMIC DNA;

ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; EXON; FAMILY HISTORY; FRMD7 GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC MARKER; HAPLOTYPE; HETEROZYGOSITY; HUMAN; IDIOPATHIC DISEASE; INFORMED CONSENT; MUTATOR GENE; NYSTAGMUS; PATHOGENESIS; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; SIBLING; SPOUSE; X CHROMOSOME LINKAGE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CYTOSKELETAL PROTEINS; EXONS; FAMILY; FEMALE; GENOME, HUMAN; GENOMICS; HUMANS; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 44849127970     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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