Article
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Neurology - 1 Apr 1996
Seeman P J, Finckh U, Höppner J, Lakner V, Liebisch I, Grau G, Rolfs A
Abstract excerpt
Gaucher disease is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase. The prevalence of this disorder differs significantly among various populations and is highest in some Jewish populations. More than 35 disease-producing mutations of the gene have been reported. The change of the amino acid leucine at position 444 to proline (444Leu-->Pro) is the most...
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