A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration [4] (multiple letters)

American Journal of Ophthalmology

Volumn 134, Issue 3, 2002, Pages 473-474

  Snead, Martin ^a   Richards, Allan ^a   Gupta, Sanjoy K ^a   Leonard, Brian C ^a   Damji, Karim F ^a   Bulman, Dennis E ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

AUTOSOMAL DOMINANT DISORDER; CATARACT; CODON; EXON; EYE FUNDUS; FRAMESHIFT MUTATION; GENE MUTATION; GENETICS; HEARING LOSS; HUMAN; LETTER; MYOPIA; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; STICKLER SYNDROME; VITREORETINAL DEGENERATION; VITREORETINOPATHY;

EID: 0036741032     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)01635-5     Document Type: Letter

References (5)

1. A.J. Richards S. Martin J.R.W. Yates COL2A1 exon 2 mutations relevance to the Stickler and Wagner syndromes B Br J Ophthalmol 84 2000 364 371
2. A.H. Van der Hout E. Verlind H. Scheffer J.M.M. Hooymans A new family with a mutation in exon 2 of COL2A1 and Stickler syndrome without systemic manifestions Am J Hum Genet 69 2001 A2597
3. A.O. Edwards R.L. Ritter L.A. Donoso Dominant vitreoretinal degeneration without systemic manifestations stop codon mutation in exon 2 of the COL2A1 gene in a new large family Am J Hum Genet 69 2001 A2616
4. H. Wagner Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich Klin Monatsblatter fur Augenheilkunde 100 1938 840 857
5. D.M. Brown R.A. Graemiger M. Hergersberg Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13–14 Arch Ophthalmol 113 1995 671 675