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Identification of Four Novel Mutations in Classical Menkes Disease and Successful Prenatal DNA Diagnosis

✍ Scribed by Sihoun Hahn; Kyounam Cho; Kyunghwa Ryu; Jongsoo Kim; Kisoo Pai; Moonkyu Kim; Hongjoon Park; Ookjoon Yoo


Book ID
115639845
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
166 KB
Volume
73
Category
Article
ISSN
1096-7192

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Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r