HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype
Tarih
2018Yazar
Gasser, Thomas
Guven, Gamze
Hanagasi, Haşmet Ayhan
Erginel-Unaltuna, Nihan
Lohmann, Ebba
Atasu, Burcu
Pak, Meltem
Hauser, Ann-Kathrin
Simon-Sanchez, Javier
Heutink, Peter
Bilgic, Basar
Üst veri
Tüm öğe kaydını gösterÖzet
Background: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations.
Koleksiyonlar
- Makale [92797]