M.P.3.05 CoQ10 deficiency: Clinical and genetic studies
โ Scribed by C. Quinzii; L. Lopez Garcia; A. Naini; S. Di Mauro; M. Hirano
- Book ID
- 116793076
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 47 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0960-8966
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A four-generation 25-member kindred with Factor XI:C deficiency is reported. Factor XI:C levels in heterorygotes varied from 15 to 58940, suggesting that Factor XI:C values for homozygote determination should be less than 15%. The frequency of bleeding was not correlated with Factor XI:C levels in t
We have reviewed the clinical data on 120 individuals (from four personally studied families and 14 families from the literature) with inherited symptomatic antithrombin I11 deficiency in order to obtain information useful for genetic counseling and short-and long-term prophylaxis in heterozygotes o