Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots

The survival motor neuron 2 ( ) gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of -other than its modification of SMA phenotypes-is very limited. Discussions regarding the relationship between homozygous deletion and motor neuron diseases,...

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Veröffentlicht in:	Genes 2023-11, Vol.14 (12), p.2159
Hauptverfasser:	Bouike, Yoshihiro, Sakima, Makoto, Taninishi, Yuya, Matsutani, Takanori, Noguchi, Yoriko, Bo, Ryosuke, Awano, Hiroyuki, Nishio, Hisahide
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Cohort analysis DNA polymerase Enzymes Epidemiology Ethics Gene deletion Hematocrit Leukocytes Medical screening Motor neuron diseases Motor neurone disease Mutation Newborn babies Phenotypes Polymerase chain reaction SMN protein Spinal muscular atrophy
Online-Zugang:	Volltext
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