Exact(1)
In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
Similar(58)
There was also a strong reduction of the steady state levels of individual respiratory chain subunits and an almost complete deficiency in subunit e (Su e) of the F1FO-ATP synthase.
There is an almost complete lack of human safety data.
An ultrasound scan confirmed complete deficiency of the patella tendon.
Complete deficiency of ADNP in mouse embryos results in changes in gene expression profile [45].
► Complete deficiency of coagulation factor VII FVIIis is lethal.
Immunohistochemical investigation demonstrated complete deficiency of telethonin, which is totally indicative of LGMD2G [ 2- 12].
Complete deficiency of the purine recycling enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), causes Lesch-Nyhan disease (LND).
This mimics the situation in humans with complete deficiency of FI.
In complete deficiency of vitamin A vision during the day is also lost.
A further deficiency is the almost complete absence of reliable abortion statistics in the country.
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