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*A novel mutation in PLP1* causes severe hereditary spastic paraplegia type 2**

Authors:	Leila Noetzli Pablo G Sanz Gary L Brodsky Jesse D Hinckley Juan C Giugni Rolando J Giannaula Pedro Gonzalez-Alegre Jorge Di Paola

Institution:	1. Department of Pediatrics, University of Colorado Denver School of Medicine, USA;2. Human Medical Genetics and Genomics Program, University of Colorado Denver School of Medicine, USA;3. Department of Neurology, Hospital Español de Buenos Aires, Argentina;4. Department of Neurology, University of Iowa, USA

Abstract:

Keywords:	HSP hereditary spastic paraplegia PLP1 proteolipid protein 1 (human gene) PMD Pelizaeus&ndash Merzbacher disease G guanosine C cytidine c 88G> C cDNA nucleotide 88 is changed from guanosine to cytidine PLP1 proteolipid protein 1 (human protein) kb kilobase DM20 isoform of PLP1 Plp1 proteolipid protein 1 (mouse gene) ER endoplasmic reticulum UPR unfolded protein response DNA deoxyribonucleic acid L1CAM L1 cell adhesion molecule (human gene) NCBI National Center for Biotechnology Information SPG1 spastic paraplegia type 1 cDNA complementary DNA WT wild type EGFP enhanced green fluorescent protein p A30P protein amino acid 30 is changed from alanine to proline MUT mutant PDI protein disulfide isomerase OMIM Online Mendelian Inheritance in Man c 89C> A cDNA nucleotide 89 is changed from cytidine to adenosine p A30E protein amino acid 30 is changed from alanine to glutamic acid
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