Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

American Journal of Medical Genetics

Volumn 71, Issue 3, 1997, Pages 357-360

  Bond, C ^a   Si, X ^a   Crisp, M ^a   Wong, P ^a   Paulson, G W ^a   Boesel, C P ^a   Dlouhy, S R ^a   Hodes, M E ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Nonsense mutation; Pelizaeus Merzbacher disease; Proteolipid protein; X linked spastic paraplegia

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FAMILY HISTORY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NONSENSE MUTATION; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; STOP CODON;

ADULT; BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; CODON, NONSENSE; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MYELIN PROTEOLIPID PROTEIN; PARAPLEGIA; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPINAL CORD; X CHROMOSOME;

EID: 0030811798     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970822)71:3<357::AID-AJMG19>3.0.CO;2-J     Document Type: Article

References (8)