A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

doi:10.1002/ajmg.a.38076

Article

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

American journal of medical genetics. Part A - 1 Mar 2017

Marsh Ashley P L, Yap Patrick, Tan Tiong, Pope Kate, White Susan M, Chong Belinda, Mcgillivray George, Boys Amber, Stephenson Sarah E M, Leventer Richard J, Stark Zornitza, Lockhart Paul J

Abstract excerpt

No abstract is available from the source.

Topics

AMP Deaminase
Cerebellar Diseases
Child, Preschool
Humans
Infant
Male
Mutation
Protein Domains

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