The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies

Ophthalmology - Tập 111 - Trang 1407-1409 - 2004
Anthony J. Aldave1, Vivek S. Yellore2, Cynthia A. Self2, Doug Holsclaw3, Kent Small4
1Department of Ophthalmology, The University of California, San Francisco/Francis I. Proctor Foundation, San Francisco, California, USA
2Cornea Service, The Jules Stein Eye Institute, The University of California, Los Angeles, Los Angeles, California, USA
3Department of Ophthalmology, Kaiser Permanente, Redwood City, California, USA
4Retina Service, The Jules Stein Eye Institute, The University of California, Los Angeles, Los Angeles, California, USA

Tài liệu tham khảo

Munier, 1997, Kerato-epithelin mutations in four 5q31-linked corneal dystrophies, Nat Genet, 15, 247, 10.1038/ng0397-247 Korvatska, 1998, Mutation hot spots in 5q31-linked corneal dystrophies, Am J Hum Genet, 62, 320, 10.1086/301720 Dubord, 1982, Diagnosis of early lattice corneal dystrophy, Arch Ophthalmol, 100, 788, 10.1001/archopht.1982.01030030792013 Stone, 1994, Three autosomal dominant corneal dystrophies map to chromosome 5q, Nat Genet, 6, 47, 10.1038/ng0194-47 Warren, 2003, Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India, Arch Ophthalmol, 121, 1608, 10.1001/archopht.121.11.1608
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Ophthalmology

Tập 111

1407-1409

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