Cladaras C, Hadzopoulou-Cladaras M, Felber BK, Pavlakis G, Zannis VI. The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. J Biol Chem. 1987 Feb 15;262(5):2310-5. PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. APOE c.237-1A>G