Spinal muscular atrophy carriers with two SMN1 copies

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Over 95% of SMA patients have homozygous deletions of the SMA-causative gene, SMN1. Thus, SMA carriers are usually diagnosed based on SMN1 copy number, with one copy indicating SMA carrier status. However, two SMN1 copie...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2017-11, Vol.39 (10), p.851-860
Hauptverfasser:	Ar Rochmah, Mawaddah, Awano, Hiroyuki, Awaya, Tomonari, Harahap, Nur Imma Fatimah, Morisada, Naoya, Bouike, Yoshihiro, Saito, Toshio, Kubo, Yuji, Saito, Kayoko, Lai, Poh San, Morioka, Ichiro, Iijima, Kazumoto, Nishio, Hisahide, Shinohara, Masakazu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Carrier testing DNA Copy Number Variations Family Female Gene conversion Gene Deletion Genetic Carrier Screening - methods Genetic Counseling Homozygote Humans Intragenic mutation Male Middle Aged Multiplex Polymerase Chain Reaction - methods Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - metabolism Mutation - genetics Pedigree Sequence Deletion - genetics Spinal muscular atrophy Survival of Motor Neuron 1 Protein - blood Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 1 Protein - metabolism
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