Results 131 to 140 of about 9,755 (237)
SMN1 heterozygosity is associated with decreased aneuploidy rates [PDF]
Fertility and Sterility, 2018 D. Aharon +7 more
openaire +1 more source
PREVALANCE OF SURVIVAL MOTOR NEURON GENE 1 (SMN1) DELETIONS IN PATIENS WITH SPINAL MUSCULAR ATROPHY [PDF]
, 2007 Amaç: Otozomal resesif bir nöromüsküler hastalık olan Spinal Muskuler Atrofi, proksimal kaslarda ilerleyici tarzda güçsüzlük ve atrofi ile karakterizedir. Bu hastalık survival motor neuron gen 1 (SMN1)'in homozigot kaybı sonucu meydana gelir.
BORA, ELÇİN
core
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
, 2006 Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C-->T transition in exon 7 that causes substantial skipping of this exon, such that
Cartegni, Luca +14 more
core +1 more source
Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report
, 2023 Han Luo, Shanshan Li, Bo Liu
openalex +1 more source
An engineered U1 snRNP redefines SMN1 exon 7 carrying a pathogenic mutation at the splice donor site
, 2016 The human genome has two copies of the Survival Motor Neuron (SMN) gene, SMN1 and SMN2. The absence of SMN1 results in spinal muscular atrophy (SMA), a leading genetic disease among infants and children.
Del Rio-Malewski, José
core
Survival of motor neuron 1 telomeric (SMN1); survival of motor neuron 2 centromeric (SMN2; SMNC); glycogen dependent kinase 3 (GSK3) [PDF]
, 2011 openalex +1 more source