This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
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344.4EUR
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Număr Catalog 665-STJ11100704CategorieAfaceri și industrie > Știință și laboratorFurnizorSt John's LaboratoryGentaurDimensiune50 µlTipsingle