ABCD1 p.Gly248Arg
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PMID: 24154795
[PubMed]
Bargiela D et al: "An under-recognised cause of spastic paraparesis in middle-aged women."
No.
Sentence
Comment
45
Genetic testing identified a heterozygous c.742G>C (p. Gly248Arg) mutation in exon 1 of the ABCD1 gene.
X
ABCD1 p.Gly248Arg 24154795:45:55
status: NEW