Clinical Variability of Stickler Syndrome: Role of Exon 2 of the Collagen COL2A1 Gene
Donoso, Larry A, Edwards, Albert O, Frost, Arcilee T, Ritter, Robert, Ahmad, Nina, Vrabec, Tamara, Rogers, Jerry, Meyer, David, Parma, Scott
Published in Survey of ophthalmology (01.03.2003)
Published in Survey of ophthalmology (01.03.2003)
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Journal Article
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
Donoso, Larry A, Edwards, Albert O, Frost, Arcilee T, Ritter, Robert, Ahmad, N.Nina, Vrabec, Tamara, Rogers, Jerry, Meyer, David
Published in American journal of ophthalmology (01.11.2002)
Published in American journal of ophthalmology (01.11.2002)
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Journal Article
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity
Donoso, L A, Frost, A T, Stone, E M, Weleber, R G, MacDonald, I M, Hageman, G S, Cibis, G W, Ritter, 3rd, R, Edwards, A O
Published in Archives of ophthalmology (1960) (01.04.2001)
Published in Archives of ophthalmology (1960) (01.04.2001)
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Journal Article
Clinical Variability of Stickler Syndrome
Donoso, Larry A, Edwards, Albert O, Frost, Arcilee T, Ritter, Robert, Ahmad, Nina, Vrabec, Tamara, Rogers, Jerry, Meyer, David, Parma, Scott
Published in Survey of ophthalmology (01.03.2003)
Published in Survey of ophthalmology (01.03.2003)
Get full text
Journal Article