Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

Molecular Vision

Volumn 14, Issue , 2008, Pages 829-835

  Romero, Pablo ^a   Vogel, Marlene ^a   Diaz, Jose Manuel ^a   Romero, Maria Patricia ^b   Herrera, Luisa ^b  

^a HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; CYTOSINE; GENOMIC DNA; NUCLEOTIDE; THYMINE; TRANSFORMING GROWTH FACTOR;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; CORNEA DYSTROPHY; DISEASE SEVERITY; DNA EXTRACTION; EXON; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HUMAN; LEUKOCYTE; MALE; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; VISUAL ACUITY;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CYSTEINE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA;

EID: 43749091738     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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