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PREPL Deficiency: Delineation of the Phenotype and Development of a Functional Blood Assay.

Luc Régal,Emma Mårtensson,Isabelle Maystadt,Nicol Voermans,Damien Lederer,Alberto Burlina,María Jesús Juan Fita,A Jeannette M Hoogeboom,Mia Olsson Engman,Tess Hollemans,Meyke Schouten,Sandra Meulemans, Tord Jonson,Inge François,David Gil Ortega,Erik-Jan Kamsteeg,John W M Creemers

Genetics in Medicine（2017）

Cited 26|Views60
Key words
blood assay,hypotonia–cystinuria syndrome,neonatal hypotonia,Prader–Willi syndrome,PREPL
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