Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of pelizaeus-merzbacher disease

American Journal of Medical Genetics

Volumn 69, Issue 2, 1997, Pages 121-125

  Hodes, M E ^a,e   Blank, C A ^b   Pratt, V M ^a   Morales, J ^c   Napier, J ^d   Dlouhy, S R ^a  

^a INDIANA UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c WALTER REED ARMY MEDICAL CENTER   (United States)

^d University MEDNET   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

nonsense mutation; Pelizaeus Merzbacher disease; proteolipid protein; X linked spastic paraplegia

Indexed keywords

PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CASE REPORT; DEMENTIA; DNA DETERMINATION; EXON; HUMAN; MALE; MENTAL DEFICIENCY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PELIZAEUS MERZBACHER DISEASE; PERSONALITY DISORDER; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPASTIC PARAPLEGIA; TREMOR; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA PRIMERS; EXONS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0031042927     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970317)69:2<121::AID-AJMG2>3.0.CO;2-S     Document Type: Article

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