@ar0berts

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

, , , , and . Am J Med Genet 75 (5): 516--517 (February 1998)

Abstract

A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo, as it was absent from his mother.

Links and resources

BibTeX key:
Hodes1998
search on:

Comments and Reviews  
(0)

There is no review or comment yet. You can write one!

Tags


Cite this publication