PMC Links for Nucleotide (Select 1676317944) - PMC - NCBI

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Items: 3

Select item 64692571.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice A. Dominov, Özgün Uyan, Diane McKenna‐Yasek, Babi Ramesh Reddy Nallamilli, Virginie Kergourlay, Marc Bartoli, Nicolas Levy, Judith Hudson, Teresinha Evangelista, Hanns Lochmuller, Martin Krahn, Laura Rufibach, Madhuri Hegde, Robert H. Brown, Jr

Ann Clin Transl Neurol. 2019 Apr; 6(4): 642–654. Published online 2019 Mar 3. doi: 10.1002/acn3.738

PMCID:: PMC6469257

Abstract Article PDF–1.4M

Select item 60533712.

FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins

Faraz M. Harsini, Sukanya Chebrolu, Kerry L. Fuson, Mark A. White, Anne M. Rice, R. Bryan Sutton

Sci Rep. 2018; 8: 10949. Published online 2018 Jul 19. doi: 10.1038/s41598-018-29184-1

PMCID:: PMC6053371

Abstract Article PDF–2.4M

Select item 59927093.

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

BMC Med Genet. 2018; 19: 95. Published online 2018 Jun 7. doi: 10.1186/s12881-018-0613-x

PMCID:: PMC5992709

Abstract Article PDF–954K

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