Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation(Val113Ile) in a family with granular dystrophy

Molecular Vision

Volumn 12, Issue , 2006, Pages 331-335

  Zenteno, Juan Carlos ^a   Ramirez Miranda, Arturo ^a   Santacruz Valdes, Concepción ^a   Suarez Sanchez, Raul ^a  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ISOLEUCINE; TRANSFORMING GROWTH FACTOR BETA1; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOMICROSCOPY; CASE REPORT; CORNEA DYSTROPHY; CORNEA OPACITY; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; VISUAL SYSTEM EXAMINATION;

ADENINE; ADULT; BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL OPACITY; CORNEAL STROMA; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GUANINE; HETEROZYGOTE; HUMANS; ISOLEUCINE; MUTATION, MISSENSE; TRANSFORMING GROWTH FACTOR BETA; VALINE;

EID: 33645709434     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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