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of 3
pro vyhledávání: '"Ahron Ekstein"'
Autor:
David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden, Ahron Ekstein, Josef Ekstein
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive c
Externí odkaz:
https://doaj.org/article/565f0f112a554ed790fd8cfda85b3719
Publikováno v:
American Journal of Medical Genetics Part A. 185:1589-1597
THG1L-associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification. The product of THG1L is the tRNA-histidine guanylyltransferase 1-like enzyme that catalyzes the 3'-5"addition of g
Autor:
Yael Kahan, David A. Zeevi, Sholem Y. Scher, Rinat Benel, Josef Ekstein, Tzvi Weiden, Wendy K. Chung, Yoel Hirsch, Ahron Ekstein, Rachel Bringer, Hagit Muallem, Chaim Levi
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions