Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
CLARKE, Nigel F, MAUGENRE, Svetlana, ENDO, Tamao, CHOUERY, Eliane, CAMPBELL, Kevin P, MEGARBANE, André, GUICHENEY, Pascale, VANDEBROUCK, Aurélie, URTIZBEREA, J. Antoni, WILLER, Tobias, PEAT, Rachel A, GRAY, Prançoise, BOUCHET, Céline, MANYA, Hiroshi, VUILLAUMIER-BARROT, Sandrine
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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