A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-020-04843-2.pdf
Reference42 articles.
1. Wanders RJ, Waterham HR (2006a) Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 75:295–332
2. Berendse K, Engelen M, Ferdinandusse S, Majoie CBLM, Waterham HR, Vaz FM, Koelman JHTM, Barth PG, Wanders RJA, Poll-The BT (2016) Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis 39:93–106
3. Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M, Poll-The BT (2015) Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis 10:151
4. Chang CC, Gould SJ (1998) Phenotype–genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. Am J Hum Genet 63:1294–1306
5. Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N (2004) The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab 83:252–263
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1. A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder;American Journal of Medical Genetics Part A;2023-05-05
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