• Mutation; HGNC; HGNC:2928; DMD; Simple; p.Gln1973Ter (c.5917C>T) (p.Gln1965Ter, c.5893C>T); ClinVar=VCV000217206; Zygosity=Hemizygous (PubMed=21354051).
  

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018; PMCID=PMC3128550
Lisa V. Kalman, Jay C. Leonard, Norman P. Gerry, Jack C. Tarleton, Christina Bridges, Julie M. Gastier-Foster, Robert E. Pyatt, Eileen Stonerock, Monique A. Johnson, C. Sue Richards, Iris Schrijver ...Show all 17 authors... , Tian-Hui Ma, Vanessa Rangel Miller, Yetsa Adadevoh, Pat Furlong, Christine M. Beiswanger, Lorraine H. Toji; Show fewer authors
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
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)