A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

Brain and Development

Volumn 33, Issue 8, 2011, Pages 697-699

  Fukumura, Shinobu ^a,b   Adachi, Noriaki ^b   Nagao, Masayoshi ^c   Tsutsumi, Hiroyuki ^a  

^a SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Kushiro City General Hospital   (Japan)

^c HOKKAIDO MEDICAL CENTER   (Japan)

Author keywords

Classical type; Cysteine bridge; Pelizaeus Merzbacher disease; PLP1; Point mutation

Indexed keywords

ARGININE; CYSTEINE; GENOMIC DNA; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISULFIDE BOND; DNA DETERMINATION; DNA SEQUENCE; DYSPNEA; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; GENE DUPLICATION; GENETIC ANALYSIS; HUMAN; INFANCY; LATENT PERIOD; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; POINT MUTATION; PROTEIN TERTIARY STRUCTURE; QUADRIPLEGIA; STRIDOR; VOLUNTARY MOVEMENT; WHITE MATTER;

DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 79960904147     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.11.010     Document Type: Article

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