Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Author:
Affiliation:
1. Universidade de São Paulo, Brazil
2. Universidade de São Paulo, Brazil; Universidade de São Paulo, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v41n1/1415-4757-gmb-1678-4685-GMB-2017-0172.pdf
Reference12 articles.
1. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality;Belet S;Hum Mutat,2014
2. Mutations in PIGL in a patient with Mabry syndrome;Fujiwara I;Am J Med Genet A,2015
3. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome;Knight Johnson A;Am J Med Genet A,2017
4. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome;Krawitz PM;Nat Genet,2010
5. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome;Murakami Y;J Biol Chem,2012
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