Mutation p.Arg954Trp of KIF21A Causes Congenital Fibrosis of the Extraocular Muscles in a Chinese Family

Acta Genetica Sinica

Volumn 33, Issue 8, 2006, Pages 685-691

  ZHANG, Xian Qin ^a   PENG, Jian Hong ^b   TANG, Zhao Hui ^a   XU, Cheng Qi ^a   ZHOU, Xin ^b   GONG, Shu Xian ^c   LIU, Jing Yu ^a   WANG, Qing ^a,d   LIU, Mu Gen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b WUHAN UNIVERSITY   (China)

^c Wuhan Aier Eye Hospital   (China)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

CFEOM; KIF21A; linkage analysis; mutation; SSCP

Indexed keywords

ARGININE; GENOMIC DNA; KINESIN; MOLECULAR MOTOR; PROTEIN KIF21A; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CHINESE; CHROMOSOME 12Q; CLINICAL ARTICLE; CODON; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLE TYPE 1; CONGENITAL STRABISMUS; CONTROLLED STUDY; DNA SEQUENCE; EXON; EXTRAOCULAR MUSCLE; FAMILY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; LINKAGE ANALYSIS; MALE; MARKER GENE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULAR FIBROSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; FIBROSIS; HUMANS; KINESIN; MALE; MUTATION; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA; PEDIGREE; TRYPTOPHAN; YOUNG ADULT;

EID: 33747375688     PISSN: 03794172     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0379-4172(06)60100-5     Document Type: Article

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