Inborn Errors of Metabolism Affecting the Retina

Author:

Olitsky Scott E.

Publisher

Springer Berlin Heidelberg

Reference37 articles.

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2. O’Donnell Jr., F.E., Green, W.R., Fleischman, J.A., Hambrick, G.W.: X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch. Ophthalmol. 96, 1189–1192 (1978)

3. Lee, S.T., Nicholls, R.D., Schnur, R.E., et al.: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum. Mol. Genet. 3, 2047–2051 (1994)

4. Lee, S.T., Nicholls, R.D., Bundey, S., Laxova, R., Musarella, M., Spritz, R.A.: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N. Engl. J. Med. 330, 529–534 (1994)

5. Boissy, R.E., Zhao, H., Oetting, W.S., et al.: Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”. Am. J. Hum. Genet. 58, 1145–1156 (1996)

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