The prevalence of PMM2-CDG in estonia based on population carrier frequencies and diagnosed patients

JIMD Reports

Volumn 39, Issue , 2018, Pages 13-17

  Vals, Mari Anne ^a,b   Pajusalu, Sander ^a,b   Kals, Mart ^c   Mägi, Reedik ^c   Õunap, Katrin ^a,b  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c UNIVERSITY OF TARTU   (Estonia)

Author keywords

Biobank; Carrier frequency; N glycosylation; p.R141H; PMM2 CDG

Indexed keywords

EID: 85046675155     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2017_41     Document Type: Chapter

References (13)

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