Citations for
1GLE1, LCCS1
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.
Folkmann AW, Collier SE, Zhan X, Aditi, Ohi MD, Wente SR.
Cell 155(3):582-93. doi: 10.1016/j.cell.2013.09.023. Epub 2013 Oct 24. 2013
2GLE1, LCCS1
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen HO, KestilŠ M, PakkasjŠrvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L.
Nat Genet 40(2):155-7. Epub 2008 Jan 20. 2008
3LCCS1
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.
Makela-Bengs P, Jarvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipila M, Herva R, Palotie A, Peltonen L.
Am J Hum Genet 63(2):506-16. 1998
4LCCS1
The assignment of the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34. (abstr)
MŠkelŠ-Bengs P, et al.
Am J Hum Genet 61 : A30. 1997
5LCCS1
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
Vuopala K, Makela-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L.
J Med Genet 32(1):36-8. 1995