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Mutations in FAM50A suggest that Armfield XLID syndrome is ..:
Lee, Y-R
;
Khan, K
;
Armfield-Uhas, K
...
Nature communications, 2020, 11 (1), pp. 3698 - ?. , 2020
Link:
https://repository.icr.ac.uk/handle/internal/4022
RT Journal T1
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftinstcancerres:oai:repository.icr.ac.uk:internal_4022&Exemplar=1&LAN=DE A1 Lee, Y-R A1 Khan, K A1 Armfield-Uhas, K A1 Srikanth, S A1 Thompson, NA A1 Pardo, M A1 Yu, L A1 Norris, JW A1 Peng, Y A1 Gripp, KW A1 Aleck, KA A1 Li, C A1 Spence, E A1 Choi, T-I A1 Kwon, SJ A1 Park, H-M A1 Yu, D A1 Do Heo, W A1 Mooney, MR A1 Baig, SM A1 Wentzensen, IM A1 Telegrafi, A A1 McWalter, K A1 Moreland, T A1 Roadhouse, C A1 Ramsey, K A1 Lyons, MJ A1 Skinner, C A1 Alexov, E A1 Katsanis, N A1 Stevenson, RE A1 Choudhary, JS A1 Adams, DJ A1 Kim, C-H A1 Davis, EE A1 Schwartz, CE YR 2020 K1 NIH 3T3 Cells K1 Cell Nucleus K1 Spliceosomes K1 Animals K1 Zebrafish K1 Humans K1 Mice K1 Mental Retardation K1 X-Linked K1 Syndrome K1 RNA-Binding Proteins K1 DNA-Binding Proteins K1 Zebrafish Proteins K1 RNA K1 Messenger K1 Small Nuclear K1 Pedigree K1 Family K1 Gene Expression Regulation K1 Developmental K1 RNA Splicing K1 Protein Transport K1 Phenotype K1 Mutation K1 Missense K1 Adult K1 Child K1 Preschool K1 Female K1 Male K1 Intellectual Disability JF Nature communications, 2020, 11 (1), pp. 3698 - ? LK http://dx.doi.org/https://repository.icr.ac.uk/handle/internal/4022 DO https://repository.icr.ac.uk/handle/internal/4022 SF ELIB - SuUB Bremen
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