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Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

โœ Scribed by Borhany, M.; Boijout, H.; Pellequer, J.-L.; Shamsi, T.; Moulis, G.; Aguilar-Martinez, P.; Schved, J.-F.; Giansily-Blaizot, M.


Book ID
121713506
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
97 KB
Volume
19
Category
Article
ISSN
1351-8216

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Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the molecular basis of multiple acyl-CoA dehydrogenation deficiency (MADD), an autosomal recessively inherited and clinically heterogeneous disease that has been divided into three clinical forms: a neonatal-onset fo