A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency

A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency

Fatty acid delta-6-desaturase (FADS2) is the rate-limiting enzyme in mammalian synthesis of long-chain polyunsaturated fatty acids. We investigated the molecular mechanism of FADS2 deficiency in skin fibroblasts from a patient deficient in this enzyme. Expression analyses demonstrated an 80% to 90%...

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Bibliographic Details
Main Authors: Joseph O. Nwankwo, Arthur A. Spector, Frederick E. Domann
Format: Article
Language:English
Published: Elsevier 2003-12-01
Series:Journal of Lipid Research
Subjects:
fatty acid metabolism
polyunsaturated fatty acid
gene expression
insertion polymorphism
CCAAT enhancer binding protein
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520319490

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http://www.sciencedirect.com/science/article/pii/S0022227520319490

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