Zobrazeno 1 - 3
of 3
pro vyhledávání: '"C L, Beaulieu"'
Autor:
J S, Amos, L, Huang, J, Thevenon, A, Kariminedjad, C L, Beaulieu, A, Masurel-Paulet, H, Najmabadi, Z, Fattahi, M, Beheshtian, S H, Tonekaboni, S, Tang, K L, Helbig, W, Alcaraz, J-B, Rivière, L, Faivre, A M, Innes, R R, Lebel, K M, Boycott
Publikováno v:
Clinical genetics. 91(1)
THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ce48b9aac1ce0ca2ec4abc93f5d7d26
https://pubmed.ncbi.nlm.nih.gov/27102954
https://pubmed.ncbi.nlm.nih.gov/27102954
Autor:
D A, Dyment, E, Sell, M R, Vanstone, A C, Smith, D, Garandeau, V, Garcia, S, Carpentier, E, Le Trionnaire, F, Sabourdy, C L, Beaulieu, J A, Schwartzentruber, H J, McMillan, J, Majewski, D E, Bulman, T, Levade, S, Scherer
Publikováno v:
Clinical genetics. 86(6)
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N-acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by moto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c7d23f5a7b13ea58c565f36a90b4d19
https://pubmed.ncbi.nlm.nih.gov/24164096
https://pubmed.ncbi.nlm.nih.gov/24164096
Autor:
C. L. Beaulieu
Publikováno v:
Archives of Clinical Neuropsychology. 12:285-286
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f9d553f2aad05b1c7d86e15a16f2e1
https://doi.org/10.1093/arclin/12.4.285a
https://doi.org/10.1093/arclin/12.4.285a