X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

American Journal of Medical Genetics

Volumn 75, Issue 5, 1998, Pages 516-517

  Hodes, M E ^a   Hadjisavvas, Andreas ^b   Butler, Ian J ^c   Aydanian, Antonina ^a   Dlouhy, Stephen R ^a  

^a INDIANA UNIVERSITY   (United States)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c UNIVERSITY OF TEXAS   (United States)

Author keywords

Mutation; Pelizaeus Merzbacher disease; Proteolipid protein gene; Spastic paraplegia; X linked

Indexed keywords

PROTEOLIPID PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; SPASTIC PARAPLEGIA; X CHROMOSOME LINKED DISORDER;

AMINO ACID SUBSTITUTION; CEREBRAL PALSY; CHILD; EXONS; HUMANS; LINKAGE (GENETICS); MALE; MYELIN PROTEOLIPID PROTEIN; PARAPLEGIA; PHENYLALANINE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SERINE; X CHROMOSOME;

EID: 0032539593     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980217)75:5<516::AID-AJMG11>3.0.CO;2-N     Document Type: Article

References (13)

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