Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

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Title: Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Authors: Tsygankova P; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Bychkov I; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Minzhenkova M; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Pechatnikova N; Morozov Children's City Clinical Hospital, 4th Dobryninskij per, 1/9, Moscow, Russia., Bessonova L; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Buyanova G; Regional Children's Clinical Hospital of Chelyabinsk, 454076 Chelyabinsk, 42a Blucher Street, Russia., Naumchik I; Republican scientific medical center 'Mother and child', Minsk, Belarus, 66 Orlovskaya str., Minsk 220053, Belarus., Beskorovainiy N; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Tabakov V; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Itkis Y; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Shilova N; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia., Zakharova E; Research centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Jun 23; Vol. 32, pp. 100889. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2022.100889