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A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
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Young, P.1
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0029856839
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Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.
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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
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Nicholson GA, Valentijn LJ, Cherryson AK, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet 1994;6:263-266.
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Nicholson, G.A.1
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A nonsense mutation in the PMP22 gene in Hereditary Neuropathy with liability to Pressure Palsies (HNPP) not associated with the 17p11.2 deletion [abstract].
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Taroni F, Botti S, Sghirlanzoni A, Botteon G, DiDonato S, Pareyson D. A nonsense mutation in the PMP22 gene in Hereditary Neuropathy with liability to Pressure Palsies (HNPP) not associated with the 17p11.2 deletion [abstract]. Am J Hum Genet 1995;57(suppl):A229.
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Taroni, F.1
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Elucidation of the molecular defect causing a severe type of hereditary neuropathy with liability to pressure palsies (HNPP) in patients lacking the common 1.5 Mb deletion in chromosome 17p [abstract].
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Mariman ECM, Gabreëls-Festen AAWM, van Beersum SEC, et al. Elucidation of the molecular defect causing a severe type of hereditary neuropathy with liability to pressure palsies (HNPP) in patients lacking the common 1.5 Mb deletion in chromosome 17p [abstract]. Am J Hum Genet 1995;57(suppl):A22.
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Mariman, E.1
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Phenotypical differences in HNPP patients with a point mutation compared to patients with a deletion [abstract].
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Lenssen PPA, Gabreëls-Festen AAWM, Mariman ECM, van Engelen BGM, Gabreëls FJM. Phenotypical differences in HNPP patients with a point mutation compared to patients with a deletion [abstract]. J Neurol 1996;243(suppl 2):S18.
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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
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Mariman ECM, Gabreëls-Festen AAWM, van Beersum SEC, et al. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994;36:650-655.
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Mariman, E.1
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Hereditary neuropathy with liability to pressure palsies in childhood.
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Gabreëls-Festen AAWM, Gabreëls FJM, Joosten EMG, Vingerhoets HM, Renier WO. Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics 1992;23:138-143.
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0027458576
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Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase(LCAT) deficiency: six newly identified defective alleles further contribute to the structural heterogeneity in the disease.
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Funke H, von Eckardstein A, Pritchard PH, et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase(LCAT) deficiency: six newly identified defective alleles further contribute to the structural heterogeneity in the disease. J Clin Invest 1993;91:677-683.
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Funke, H.1
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A molecular defect causing fish eye disease: an amino acid exchange in lecithin: cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LACT activity.
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Funke H, von Eckardstein A, Pritchard PH, et al. A molecular defect causing fish eye disease: an amino acid exchange in lecithin: cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LACT activity. Proc Natl Acad Sci U S A 1991;88:4855-4859.
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A novel variant of lysosomal acid lipase (Leu336Pro) associated with acid lipase deficiency and cholesterol ester storage disease (CESD).
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Seedorf U, Wiebusch H, Muntoni S, et al. A novel variant of lysosomal acid lipase (Leu336Pro) associated with acid lipase deficiency and cholesterol ester storage disease (CESD). Arterioscl Thromb Vasc Biol 1995;15:773-778.
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Wolman disease due to homozygosity for a novel truncated variant of lysosomal acid lipase (351insA) associated with complete in situ acid lipase deficiency [abstract].
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Seedorf U, Wiebusch H, Muntoni S, Ertan M, Funke H, Assmann G. Wolman disease due to homozygosity for a novel truncated variant of lysosomal acid lipase (351insA) associated with complete in situ acid lipase deficiency [abstract]. Circulation 1996;8(Suppl):1-35.
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Seedorf, U.1
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