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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H. Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.

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