A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum
Author:
Affiliation:
1. Department of Medical Genetics; Nizam's Institute of Medical Sciences; Hyderabad India
2. Division of Diagnostics; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India
3. MedGenome Labs; Bangalore India
Funder
Department of Biotechnology
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37654/fullpdf
Reference10 articles.
1. The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction;Bachiller;Cell Mol Life Sci,2015
2. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase;Chong-Kopera;J Biol Chem,2006
3. Multiple sequence alignment with hierarchical clustering;Corpet;Nucl Acids Res,1988
4. The HERC proteins: Functional and evolutionary insights;Garcia-Gonzalo;Cell Mol Life Sci,2005
5. Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase;Mashimo;PLoS Genet,2009
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