title: Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy.
abstract: The authors suggest a simplification for the current molecular genetic testing of spinal muscular atrophy (SMA). Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of SMA. It is based on sole contribution of survival motor neuron 1 (SMN1) exon 7 to SMA pathogenesis.
authors.affiliation: Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia. teguhharyosasongko@yahoo.com
authors.forename: Teguh Haryo
authors.initials: TH
authors.lastname: Sasongko
authors.lastname: Gunadi
authors.forename: Bin Alwi
authors.initials: BA
authors.lastname: Zilfalil
authors.forename: Zamh
authors.initials: Z
authors.lastname: Zabidi-Hussin
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein