A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family

Molecular Vision

Volumn 14, Issue , 2008, Pages 56-60

  He, Xiang ^a,b   Gu, Feng ^a,b   Wang, Yujing ^b   Yan, Jinting ^a,b   Zhang, Meng ^a,b   Huang, Shangzhi ^b   Ma, Xu ^a,b,c  

^a NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

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

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; EYE PROTEIN; PHENYLALANINE; PROTEIN FRMD7; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CELL; CHINESE; CHROMOSOME INACTIVATION; CLINICAL ARTICLE; CODON; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; EXON; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; IDIOPATHIC DISEASE; INFORMED CONSENT; MALE; METHYLATION; MICROSATELLITE MARKER; MUTANT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, X; CYSTEINE; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; GUANINE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; PHENYLALANINE; THYMINE;

EID: 38349036480     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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