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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

✍ Scribed by Rob Ofman; P.N. Jos Ruiter; Marike Feenstra; Marinus Duran; Tien Bwee Poll-The; Johannes Zschocke; Regina Ensenauer; Willy Lehnert; Jörn Oliver Sass; Wolfgang Sperl; J.A. Ronald Wanders


Book ID
117854207
Publisher
American Society of Human Genetics
Year
2003
Tongue
English
Weight
329 KB
Volume
72
Category
Article
ISSN
0002-9297

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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