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Medium chain acyl CoA dehydrogenase deficiency causes unexplained coma in a 10-year-old child

✍ Scribed by Barnaby Scrace; Peter Wilson; John Pappachan


Book ID
109030727
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
92 KB
Volume
18
Category
Article
ISSN
1155-5645

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RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency. The RFLPs were detected after digestion of patient DNA with the enzymes BanII, PstI and TaqI and with an MCAD cDNA-clone as a probe. Of