Author:
Klevering B Jeroen,Yzer Suzanne,Rohrschneider Klaus,Zonneveld Marijke,Allikmets Rando,Born L Ingeborgh van den,Maugeri Alessandra,Hoyng Carel B,Cremers Frans PM
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference52 articles.
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4. Rozet JM, Gerber S, Ghazi I et al: Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. J Med Genet 1999; 36: 447–451.
5. Maugeri A, Klevering BJ, Rohrschneider K et al: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone–rod dystrophy. Am J Hum Genet 2000; 67: 960–966.
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