Title: | A genetic and phenotypic analysis in Spanish Spinal Muscular Atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene |
Journal : | Human mutation, 22, 2 |
Authors: | Cusco I ; Lopez E ; Soler-Botija C ; Barcelo MJ ; Baiget M ; Tizzano EF |
Material Type: | Article |
Publication Date: | 2003 |
Size: | p. 136-143 |
Languages: | English |
Keywords : | adulthood ; children ; comparative studies ; densitometry ; exon ; family ; founder effect ; France ; genetic deletions ; genotype-phenotype correlation ; Germany ; haplotypes ; human group ; inheritance ; medical genetics ; RT-PCR ; sequencing ; SMN1 gene ; Spain ; spinal muscular atrophy ; SSCP ; teenagers ; United States ; young adults |