Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis

Molecular Vision

Volumn 17, Issue , 2011, Pages 3481-3485

  Liang, Chen ^a   Fan, Wei ^a   Wu, Sisi ^a   Liu, Yi ^a  

^a SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; ECTOPIA LENTIS; EXON; EYE EXAMINATION; FAMILY STUDY; FEMALE; FIBRILLIN 1 GENE; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; HUMAN; LEUKOCYTE; MALE; MOLECULAR PATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CYSTEINE; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; EXONS; FEMALE; GENES, DOMINANT; HUMANS; LENS, CRYSTALLINE; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION;

EID: 84862951602     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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