Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy

Molecular Vision

Volumn 16, Issue , 2010, Pages 224-230

  Zhong, Xingwu ^a   Chen, Suqin ^b   Huang, Weijun ^b   Yang, Jun ^a   Chen, Xiaolian ^a   Zhou, Yan ^c   Zhou, Qiang ^b   Wang, Yiming ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; HISTIDINE; LEUCINE; MUTANT PROTEIN; PHENYLALANINE; PROLINE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA INDUCED; UNCLASSIFIED DRUG; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA LATTICE DYSTROPHY; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MODEL; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN SECONDARY STRUCTURE; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; AMINO ACID SEQUENCE; ASIAN; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; CHINA; CONGENITAL CORNEA DYSTROPHY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SEQUENCE ALIGNMENT; VISUAL ACUITY;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY; YOUNG ADULT;

EID: 77952296048     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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