A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease.
Strautnieks
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S
Molecular Genetics Unit, Institute of Child Health, London, UK.
Malcolm
S
S
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D006147:Guanine; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D017354:Point Mutation; D012326:RNA Splicing; D013941:Thymine; D014960:X Chromosome
D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D006147:Guanine; D013941:Thymine