- ... Locus Protein HGMD ClinVar ISCA2 14q24 .3 Iron-sulfur cluster assembly 2 homolog, mitochondrial ISCA2 ISCA2 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... Locus Protein HGMD ClinVar ISCA1 9q21 .33 Iron-sulfur cluster assembly 1 homolog, mitochondrial ISCA1 ISCA1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... with a low mechanical index mode and a sulfur hexafluoride-filled microbubble contrast agent. J Clin Ultrasound. 2006; 34 (6):261–272. Excluded: Inadequate reference standard . [ PubMed : 16788957 ] Xu HX, Liu GJ, Lu ...
- ... with Deficiency of ISCU - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Mar 31 [updated 2016 Mar 3]. ...
- ... Sideroblastic Anemia and Ataxia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2006 Mar 1 [updated 2014 Apr 3]. ...
- ... posted live 21 February 2014 (sq) Original submission ... R. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and ...
- ... gov/genetics/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme</url><title >Myopathy with deficiency of iron-sulfur cluster assembly enzyme</title><other_names ><other_name > ...
- ... consistent with features of variant NKH (lipoate, iron-sulfur cluster defects) (see Differential Diagnosis ), and not with ... LIPT2 ) or in the synthesis of the iron-sulfur cluster necessary for the function of lipoate synthase ( ...
- ... SDHAF2 SDHB 1p36 .13 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial TCA Cycle Gene Mutation Database (SDHB) ... PPGL1 171300 PHEOCHROMOCYTOMA 185470 SUCCINATE DEHYDROGENASE COMPLEX, IRON-SULFUR SUBUNIT B; SDHB 600857 SUCCINATE DEHYDROGENASE COMPLEX, FLAVOPROTEIN ...
- ... protein required for: (1) the synthesis of iron-sulfur clusters and, thus, activity of enzymes in respiratory ... deficiency of frataxin) cause secondary deficiency of iron-sulfur cluster-containing enzymes, mislocalization of cellular iron, and ...
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