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Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

✍ Scribed by Reuber, Bernadette E.; Germain-Lee, Emily; Collins, Cynthia S.; Morrell, James C.; Ameritunga, Rohan; Moser, Hugo W.; Valle, David; Gould, Stephen J.

Book ID: 109918949
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 566 KB
Volume: 17
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1297-445

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## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal