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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

✍ Scribed by van de Kamp, J.M.; Errami, A.; Howidi, M.; Anselm, I.; Winter, S.; Phalin-Roque, J.; Osaka, H.; van Dooren, S.J.M.; Mancini, G.M.; Steinberg, S.J.; Salomons, G.S.


Book ID
125474366
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
552 KB
Volume
87
Category
Article
ISSN
0009-9163

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The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had deletions in the dystrophin gene. Two different methods were used in this study: (a) hybridization of HindIII-digested genomic DNA with nine cDNA probes corresponding to the entire 14kb cDNA of the DMD gene; and (b) simu