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

Gene

Volumn 533, Issue 1, 2014, Pages 447-450

  Noetzli, Leila ^a   Sanz, Pablo G ^b   Brodsky, Gary L ^a   Hinckley, Jesse D ^a   Giugni, Juan C ^b   Giannaula, Rolando J ^b   Gonzalez Alegre, Pedro ^c   Di Paola, Jorge ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b HOSPITAL ESPAÑOL   (Argentina)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

Hereditary spastic paraplegia; Novel mutation; PLP1

Indexed keywords

GENOMIC DNA; MUTANT PROTEIN; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ALLELE; ARGENTINA; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 2; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY;

C; C.88G>C; C.89C>A; CDNA; CDNA NUCLEOTIDE 88 IS CHANGED FROM GUANOSINE TO CYTIDINE; CDNA NUCLEOTIDE 89 IS CHANGED FROM CYTIDINE TO ADENOSINE; COMPLEMENTARY DNA; CYTIDINE; DEOXYRIBONUCLEIC ACID; DM20; DNA; EGFP; ENDOPLASMIC RETICULUM; ENHANCED GREEN FLUORESCENT PROTEIN; ER; G; GUANOSINE; HEREDITARY SPASTIC PARAPLEGIA; HSP; ISOFORM OF PLP1; KB; KILOBASE; L1 CELL ADHESION MOLECULE (HUMAN GENE); L1CAM; MUT; MUTANT; NATIONAL CENTER FOR BIOTECHNOLOGY INFORMATION; NCBI; NOVEL MUTATION; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; P.A30E; P.A30P; PDI; PELIZAEUS-MERZBACHER DISEASE; PLP1; PMD; PROTEIN AMINO ACID 30 IS CHANGED FROM ALANINE TO GLUTAMIC ACID; PROTEIN AMINO ACID 30 IS CHANGED FROM ALANINE TO PROLINE; PROTEIN DISULFIDE ISOMERASE; PROTEOLIPID PROTEIN 1 (HUMAN GENE); PROTEOLIPID PROTEIN 1 (HUMAN PROTEIN); PROTEOLIPID PROTEIN 1 (MOUSE GENE); SPASTIC PARAPLEGIA TYPE 1; SPG1; UNFOLDED PROTEIN RESPONSE; UPR; WILD TYPE; WT;

FEMALE; HUMANS; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84887215620     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.09.076     Document Type: Article

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