The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy

Molecular Vision

Volumn 13, Issue , 2007, Pages 1695-1700

  Correa Gomez, Vicente ^a   Villalvazo Cordero, Leonardo ^a   Zenteno, Juan Carlos ^a  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARTIC ACID; CYSTEINE; DNA; GENOMIC DNA; TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; DNA ISOLATION; EXON; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MEXICO; MISSENSE MUTATION; MOLECULAR MECHANICS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PENETRATING KERATOPLASTY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; ADULT; AGED; ALANINE; ASPARTIC ACID; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; TRANSFORMING GROWTH FACTOR BETA;

EID: 34748864182     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

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