A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

Archives of Ophthalmology

Volumn 117, Issue 1, 1999, Pages 90-93

  Mashima, Yukihiko ^a   Nakamura, Yu ^a   Noda, Kohsuke ^a   Konishi, Minako ^a   Yamada, Masakazu ^a   Kudoh, Jun ^a   Shimizu, Nobuyoshi ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; DNA; NUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; ELECTRON MICROSCOPY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; KERATECTOMY; KERATOPLASTY; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLIT LAMP;

EID: 0032929438     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.117.1.90     Document Type: Article

References (14)

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