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

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

DOI Full Paper Access

55

Citations

17

References

2011

Year

Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot,

European Journal of Human Genetics

Large GeneRare DiseasesMendelian DisorderGenetic DisorderGeneticsLarge Intragenic Insertion/deletionPathologyIntron 10Degenerative DiseaseMolecular GeneticsDisease Gene IdentificationMedicineClinical Genetics

References

	Year	Citations

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