ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

Gonzalo Dominguez-MenéndezHelena Poggi MayorgaMónica ArancibiaBENAVIDES GONZALEZ, FELIPE ORLANDOFELIPE ORLANDOBENAVIDES GONZALEZAlejandro Martinez-Aguayo2022-09-212022-09-212019http://hdl.handle.net/11447/6330https://investigadores.udd.cl/handle/123456789/233910.1016/j.ghir.2019.07.0022-s2.0-85070492982WOS:000504789100002als-igfinsulin-like growth factor ishort staturedelayed pubertygrowth hormoneadolescentamyotrophic lateral sclerosiscarrier proteinsexonsfemaleglycoproteinshumansmalemutation, missensepedigreesequence deletionsomatomedin binding protein 1somatomedin binding protein 3carrier proteinglycoproteininsulin-like growth factor binding protein, acid labile subunitadolescentarticlebiochemistrybody heightbody masscase reportclinical articlecomputer modelenzyme linked immunosorbent assayexongene deletiongenetic analysisgenetic codegenetic variabilitygenotypehumanmalemothernuclear magnetic resonance imagingphysical examinationpredictionpriority journalprotein deficiencysanger sequencingshort statureamyotrophic lateral sclerosisfemalegeneticsmissense mutationpathologypedigreeALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALSResource Types::text::journal::journal article