Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families

Molecular Vision

Volumn 15, Issue , 2009, Pages 826-832

  Zhao, Liming ^a   Liang, Ting ^a   Xu, Jianzhen ^b   Lin, Hui ^a   Li, Dandan ^a   Qi, Yanhua ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b GUANGZHOU INSTITUTES OF BIOMEDICINE AND HEALTH   (China)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; GENOMIC DNA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR SYSTEM EXAMINATION; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISULFIDE BOND; DNA EXTRACTION; ECTOPIA LENTIS; EYE EXAMINATION; FAMILY STUDY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPLICING DEFECT;

AMINO ACID SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; FAMILY; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 65349101670     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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