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Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders

✍ Scribed by Chia-Che Chang; Stephen J. Gould


Book ID
117852603
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
470 KB
Volume
63
Category
Article
ISSN
0002-9297

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The peroxisome biogenesis disorders (PBD) are characterized by neural, hepatic, and renal deficiencies, severe mental retardation, and are often lethal. These disorders are genetically and phenotypically heterogeneous and are caused by defective peroxisomal protein import and decreased peroxisomal m

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## Communicated by Jean-Louis Mandel Peroxisome biogenesis disorders (PBD) are lethal hereditary diseases caused by abnormalities in the biogenesis of peroxisomes. At present, 12 different complementation groups have been identified and to date, all genes responsible for each of these complementat