𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genotype-phenotype correlation and germl
✍ A. E. Covone; M. Lerone; G. Romeo 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 862 KB

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

Characterization of a deletion mutation
✍ Tadashi Ariga; Masafumi Yamada; Sukeyuki Ito; Mika Iwamura; Mikiro Iseki; Yukio 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB 👁 2 views

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