Preimplantation genetic diagnosis of spinal muscular atrophy.

Authors :: Dreesen, JCFM
Dreesen, J.C.F.M.
Bras, M
Bras, M.
de Die-Smulders, C
De Die-Smulders, C.
Dumoulin, JCM
Dumoulin, J.C.M.
Cobben, JM
Cobben, J.M.
Evers, JLH
Evers, J.L.H.
Smeets, HJM
Smeets, H.J.M.
Geraedts, JPM
Geraedts, J.P.M.
Source :: Molecular Human Reproduction; Sep98, Vol. 4 Issue 9
Publication Year :: 1998
Abstract: Describes the adjustment and evaluation of an established survival motor neuron exon 7 polymerase chain reaction (PCR) protocol at the single cell level and the preimplantation genetic diagnosis of spinal muscular atrophy with this PCR protocol. Most common severe neuromuscular disease in children; Alternative for prenatal diagnosis for couples; Genotyping of single cells.