HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

Tarih
2018
Yazar
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
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Özet
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.
Bağlantı
http://hdl.handle.net/20.500.12627/59864
https://doi.org/10.1002/mds.27442
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