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

Pubmed ID: 
28168832
Year: 
2017
Month: 
Mar
Volume: 
173
Issue: 
3
Citation: 
Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. American journal of medical genetics. Part A 173 (3) : 820 - 823(2017) PubMed (Grant IDs: 1059666, 1032364)