Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onur Emre Onat; Suleyman Gulsuner; Kaya Bilguvar; Ayse Nazli Basak; Haluk Topaloglu; Meliha Tan; Uner Tan; Murat Gunel; Tayfun Ozcelik; Onur Emre Onat; Suleyman Gulsuner; Kaya Bilguvar; Ayse Nazli Basak; Haluk Topaloglu; Meliha Tan; Uner Tan; Murat Gunel; Tayfun Ozcelik

doi:10.1038/ejhg.2012.170

2013Article

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onur Emre Onat, Suleyman Gulsuner, Kaya Bilguvar, Ayse Nazli Basak, Haluk Topaloglu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik

European journal of human genetics : EJHG · 21(3) · 281-5

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Onur Emre Onat, Suleyman Gulsuner, Kaya Bilguvar, Ayse Nazli Basak, Haluk Topaloglu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European journal of human genetics : EJHG. 2013;21(3):281-5. doi: 10.1038/ejhg.2012.170

Crossref citations: 1262026-09-05
DOI: 10.1038/ejhg.2012.170
PMID: 22892528
Source checked: 2026-09-05
Source: Open source record

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