SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which 14 of them were of Saudi origin and share the same f...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:JIMD Rep
المؤلفون الرئيسيون: Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
التنسيق: Artigo
اللغة:Inglês
منشور في: John Wiley & Sons, Inc. 2021
الموضوعات:
Research Reports
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260478/
https://ncbi.nlm.nih.gov/pubmed/34258143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12218
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