P1.2 Phenotypic profile of dystrophinopathy patients with deletion of exons 3–7 of the dystrophin gene
✍ Scribed by B.L. Wong; S.Y. Hu; P. Morehart; L.H. Cripe; M.E. Walker
- Book ID
- 116794944
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 48 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0960-8966
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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
A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud