Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene

Paul J. Isackson, Heather Bujnicki, Cary O. Harding, Georgirene D. Vladutiu

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Fingerprint Dive into the research topics of 'Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene'. Together they form a unique fingerprint.

Medicine & Life Sciences

Chemical Compounds