Matches in Nanopublications for { ?s ?p "[Through linkage analysis, homozygosity mapping, and exome sequencing in three unrelated SMA-PME-affected families, we identified a homozygous missense mutation (c.125C>T [p.Thr42Met]) in exon 2 of ASAH1 in the affected children of two families and the same mutation associated with a deletion of the whole gene in the third family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion description "[Through linkage analysis, homozygosity mapping, and exome sequencing in three unrelated SMA-PME-affected families, we identified a homozygous missense mutation (c.125C>T [p.Thr42Met]) in exon 2 of ASAH1 in the affected children of two families and the same mutation associated with a deletion of the whole gene in the third family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.