Citations for
1UBA1, SMAX
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L.
Am J Hum Genet 82(1):188-93. 2008
2SMAX
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.
Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martinez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L.
Genet Med 9(1):52-60. 2007
3SMAX
Localisation of X-linked arthrogriposis type I (X-linked infantile spinal atrophy) to Xp21-q12 in a new family. (abstr)
Martinez F, et al.
Eur J Hum Genet 6 : P4008. 1998
4SMAX
X-linked lethal infantile spinal muscular atrophy (XL-SMA) : additional clinical and molecular studies support a disease locus at Xp11.3-q11.2. (abstr)
Baumbach L, et al.
Am J Hum Genet 61 : A267. 1997
5SMAX
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.
Kobayashi H, et al.
Hum Mol Genet 4 : 1213-1216. 1995