TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies

Molecular Vision

Volumn 16, Issue , 2010, Pages 1429-1438

  Paliwal, Preeti ^a   Sharma, Arundhati ^a   Tandon, Radhika ^b   Sharma, Namrata ^b   Titiyal, Jeewan S ^b   Sen, Seema ^b   Kaur, Punit ^a   Dube, Divya ^a   Vajpayee, Rasik B ^b,c  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; GENOMIC DNA; MUTANT PROTEIN; SERINE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA INDUCED; TRYPTOPHAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BASEMENT MEMBRANE; BOWMAN MEMBRANE; CLINICAL EVALUATION; COHORT ANALYSIS; CONTROLLED STUDY; CORNEA DYSTROPHY; CORRELATION ANALYSIS; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; INDIA; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SIMULATION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ADULT; BASE SEQUENCE; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; INDIA; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; STRUCTURAL HOMOLOGY, PROTEIN; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 77955608544     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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