A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

Human mutation

Volumn 14, Issue 2, 1999, Pages 182-

  Yamamoto, T ^a   Nanba, E ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; PROTEOLIPID PROTEIN; THREONINE;

ARTICLE; GENETICS; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; SCHILDER DISEASE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALANINE; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; HUMANS; MALE; MYELIN PROTEOLIPID PROTEIN; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; THREONINE;

EID: 0033584290     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y     Document Type: Article

References (0)