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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Author List
Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS
Publication
Molecular genetics and metabolism
Publication ID (Profile URL)
https://researcherprofiles.org/profile/121969585
Publication Year
2017
PubMed ID
29122469
Publication Title
Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 12; 122(4):189-197.