• Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex49-52del; Zygosity=Hemizygous (PubMed=21354051).
  

PubMed=6726265; DOI=10.1136/jnnp.47.4.391; PMCID=PMC1027781
Robbins J.H., Scudiero D.A., Otsuka F., Tarone R.E., Brumback R.A., Wirtschafter J.D., Polinsky R.J., Barrett S.F., Moshell A.N., Scarpinato R.G., Ganges M.B., Nee L.E., Meyer S.A., Clatterbuck B.E.
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
J. Neurol. Neurosurg. Psychiatry 47:391-398(1984)

PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018; PMCID=PMC3128550
Kalman L.V., Leonard J.C., Gerry N.P., Tarleton J.C., Bridges C., Gastier-Foster J.M., Pyatt R.E., Stonerock E., Johnson M.A., Richards C.S., Schrijver I., Ma T.-H., Miller V.R., Adadevoh Y., Furlong P., Beiswanger C.M., Toji L.H.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
J. Mol. Diagn. 13:167-174(2011)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)