4.7 Letter

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Journal

JOURNAL OF NEUROLOGY
Volume 261, Issue 3, Pages 622-624

Publisher

SPRINGER HEIDELBERG
DOI: 10.1007/s00415-014-7265-3

Keywords

-

Funding

  1. NHGRI NIH HHS [U01 HG006487] Funding Source: Medline

Ask authors/readers for more resources

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available