A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
Yamamoto
T
T
Gene Research Center, Tottori University, Yonago 683-8503, Japan.
Nanba
E
E
D000409:Alanine / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D006801:Humans; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013912:Threonine / Q000235:genetics
D018991:Myelin Proteolipid Protein; D013912:Threonine; D000409:Alanine