Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.

Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P

Open source

DOI: 10.1038/ejhg.2010.212
Published: 2011 Apr
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/ejhg.2010.212,
  title = {Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.},
  author = {Clarke NF and Maugenre S and Vandebrouck A and Urtizberea JA and Willer T and Peat RA and Gray F and Bouchet C and Manya H and Vuillaumier-Barrot S and Endo T and Chouery E and Campbell KP and Mégarbané A and Guicheney P},
  year = {2011},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/ejhg.2010.212},
  url = {https://doi.org/10.1038/ejhg.2010.212}
}

RIS

TY  - JOUR
TI  - Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
AU  - Clarke NF
AU  - Maugenre S
AU  - Vandebrouck A
AU  - Urtizberea JA
AU  - Willer T
AU  - Peat RA
AU  - Gray F
AU  - Bouchet C
AU  - Manya H
AU  - Vuillaumier-Barrot S
AU  - Endo T
AU  - Chouery E
AU  - Campbell KP
AU  - Mégarbané A
AU  - Guicheney P
PY  - 2011
JO  - European journal of human genetics : EJHG
DO  - 10.1038/ejhg.2010.212
UR  - https://doi.org/10.1038/ejhg.2010.212
ER  -

APA

NF, C., S, M., A, V., JA, U., T, W., RA, P., F, G., C, B., H, M., S, V., T, E., E, C., KP, C., A, M., & P, G. (2011). Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.. European journal of human genetics : EJHG. https://doi.org/10.1038/ejhg.2010.212

Source records

pubmed · retrieved 2026-09-25T21:17:54.004Z
europe-pmc · retrieved 2026-09-25T21:17:54.025Z
hal · retrieved 2026-09-25T21:17:54.063Z