A novel frameshift mutation in FRMD7 causing x-linked idiopathic congenital nystagmus

Genetic Testing

Volumn 12, Issue 4, 2008, Pages 607-613

  He, Xiang ^a,b   Gu, Feng ^a,b   Wang, Ze ^c   Wang, Chong ^a,b   Tong, Yi ^d   Wang, Yujing ^e   Yang, Juhua ^a,d   Liu, Wei ^f   Zhang, Meng ^a,b   Ma, X ^a,b,g  

^a NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c Nanjing Southeast Ophthalmology Hospital   (China)

^d FUJIAN MEDICAL UNIVERSITY   (China)

^e Dezhou Woman and Child Hospital   (China)

^f TIANJIN MEDICAL UNIVERSITY   (China)

^g WHO Collaborative Center for Research in Human Reproduction   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHINESE; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC VALUE; DNA SEQUENCE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; FRMD7 GENE; GENE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; IDIOPATHIC CONGENITAL NYSTAGMUS; IDIOPATHIC DISEASE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CHINA; CHROMOSOMES, HUMAN, X; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; NYSTAGMUS, CONGENITAL; PEDIGREE; PENETRANCE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION;

EID: 57749107522     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0070     Document Type: Article

References (18)

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