Alu ‐mediated deletion of PIGL in a Patient with CHIME syndrome
Author:
Affiliation:
1. Department of Human GeneticsUniversity of ChicagoChicagoIllinois
2. Section of Genetics and MetabolismArkansas Children's HospitalLittle RockArkansas
3. Greenwood Genetic CenterGreenwoodSouth Carolina
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38181
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4. Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor
5. Expression Cloning of PIG-L, a CandidateN-Acetylglucosaminyl-phosphatidylinositol Deacetylase
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