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DMD
OMIM: *300377
Gene Name: dystrophin (muscular dystrophy, Duchenne and Becker types)
partial deletions in gene causes more than 60% of duchenne muscular dystrophy (DMD) or becker muscular dystrophy (BMD)
9 mutations/polymorphisms recorded....
[1] Deletion at 0.5 kb HindIII (exon number not known; 0.5 kb HindIII: size of genomic HindIII fragment that exon is located on) : Paper 1
[2] Deletion at 1.2/3.8 kb HindIII (exon number not known; 1.2/3.8 kb HindIII: size of genomic HindIII fragment that exon is located on) : Paper 1
[3] Deletion at 3.1 kb HindIII (exon number not known; 3.1 kb HindIII: size of genomic HindIII fragment that exon is located on) : Paper 1
[4] Deletion at 4.1 kb HindIII (exon number not known; 4.1 kb HindIII: size of genomic HindIII fragment that exon is located on) : Paper 1
[5] Deletion at exon 12 : Paper 1
[6] Deletion at exon 14 : Paper 1
[7] Deletion at exon 17 : Paper 1
[8] Deletion at exon 19 : Paper 1
[9] Deletion at exon 8 : Paper 1
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