A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy

American Journal of Ophthalmology

Volumn 139, Issue 1, 2005, Pages 186-188

  Taniguchi, Yukiko ^a   Tsujikawa, Motokazu ^a,c   Hibino, Sawako ^a   Tsujikawa, Kaoru ^a   Tanaka, Tatsuya ^a   Kiridoushi, Akira ^b   Tano, Yasuo ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Otemae Hospital   (Japan)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; PROTEIN; TUMOR ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CORNEA DYSTROPHY; CORNEA EPITHELIUM; GELATINOUS DROPLIKE CORNEAL DYSTROPHY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS;

ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 11844280378     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.06.090     Document Type: Article

References (5)

1. G. Smolin Corneal dystrophies and degenerations G. Smolin R. Thoft Cornea 3d ed 1994 Little, Brown Boston 499 533
2. M. Tsujikawa, H. Kurahashi, T. Tanaka Identification of the gene responsible for gelatinous drop-like corneal dystrophy Nat Genet 21 1999 420 423
3. K. Fujiki, K. Nakayasu, A. Kanai Corneal dystrophies in Japan J Hum Genet 46 2001 431 435
4. X. Tian, K. Fujiki, Q. Li Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy Am J Ophthalmol 137 2004 567 569
5. Z. Ren, P.Y. Lin, G.K. Klintworth Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy Hum Genet 110 2002 568 577