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Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021

Link: https://hdl.handle.net/11287/621948

RT Journal
T1 <Title>Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftrde:oai:https:__rde.dspace-express.com:11287_621948&Exemplar=1&LAN=DE
				
A1 Bryen, S. J
A1 Ewans, L. J
A1 Pinner, J
A1 MacLennan, S. C
A1 Donkervoort, S
A1 Castro, D
A1 Töpf, A
A1 O'Grady, G
A1 Cummings, B
A1 Chao, K. R
A1 Weisburd, B
A1 Francioli, L
A1 Faiz, F
A1 Bournazos, A. M
A1 Hu, Y
A1 Grosmann, C
A1 Malicki, D. M
A1 Doyle, H
A1 Witting, N
A1 Vissing, J
A1 Claeys, K. G
A1 Urankar, K
A1 Beleza-Meireles, A
A1 Baptista, J
A1 Ellard, S
A1 Savarese, M
A1 Johari, M
A1 Vihola, A
A1 Udd, B
A1 Majumdar, A
A1 Straub, V
A1 Bönnemann, C. G
A1 MacArthur, D. G
A1 Davis, M. R
A1 Cooper, S. T
PB Wiley
YR 2021
K1 *Alternative Splicing
K1 Arthrogryposis/*diagnosis/*genetics
K1 Child
K1 Preschool
K1 Connectin/*genetics
K1 Female
K1 *Genes
K1 Recessive
K1 Genetic Association Studies
K1 *Genetic Predisposition to Disease
K1 Humans
K1 Infant
K1 Male
K1 Muscular Diseases/*diagnosis/*genetics
K1 Mutation
K1 Pedigree
K1 Phenotype
K1 Radiography
K1 *TTN metatranscript-only
K1 *arthrogryposis
K1 *congenital titinopathies
K1 *intronic splice variant
JF https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/
LK http://dx.doi.org/https://hdl.handle.net/11287/621948
DO https://hdl.handle.net/11287/621948
SF ELIB - SuUB Bremen

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