Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy-Reference-Cited by-同舟云学术

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Published:2010-10 Issue:4 Volume:87 Page:560-566
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

McLaughlin Heather M.,Sakaguchi Reiko,Liu Cuiping,Igarashi Takao,Pehlivan Davut,Chu Kristine,Iyer Ram,Cruz Pedro,Cherukuri Praveen F.,Hansen Nancy F.,Mullikin James C.,Biesecker Leslie G.,Wilson Thomas E.,Ionasescu Victor,Nicholson Garth,Searby Charles,Talbot Kevin,Vance Jeffrey M.,Züchner Stephan,Szigeti Kinga,Lupski James R.,Hou Ya-Ming,Green Eric D.,Antonellis Anthony

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis;Annu. Rev. Genomics Hum. Genet.,2008

5. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease;Latour;Am. J. Hum. Genet.,2010

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