Familial choreoathetosis due to novel heterozygous mutation in PDE10A

Narayanan, DL; Deshpande, D; Das Bhowmik, A; Varma, DR; Dalal, A

Dalal, A (reprint author), Div Diagnost, Ctr DNA Fingerprinting & Diagnost, 4-1-714 Tuljaguda Complex Mozamzahi Rd, Hyderabad 500001, Telangana, India.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (1): 146

Abstract

PDE10A encodes a dual cAMP-cGMP phosphodiesterase that is enriched in the medium spiny neurons of the corpus striatum in the brain and plays an import......

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