(PDF) Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.10.005

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Date

November 1, 2018

Authors

Katharina Danhauser

Bader Alhaddad

Christine Makowski

Dorota Piekutowska-Abramczuk

Steffen Syrbe

Natalia Gomez-Ospina

Melanie A. Manning

Anna Kostera-Pruszczyk

Publisher

Elsevier BV

Amanote Research

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.10.005

Full Text

Abstract

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Date

Authors

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