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

Jiri Vajsar, Wenli Zhang, William B. Dobyns, Doug Biggar, Kenton R. Holden, Cynthia Hawkins, Peter Ray, Ann H. Olney, Catherine M. Burson, Anand K. Srivastava, Harry Schachter

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16 Scopus citations

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Medicine & Life Sciences