Associated Papers
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
Bi HY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Salonen T et al.
Human Mutation, 2000
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