The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Authors:
Sinkiewicz-Darol E; Lacerda AF; Kostera-Pruszczyk A; Potulska-Chromik A; Sokołowska B and 4 more

Journal:
Neurogenetics

Publication Year: 2014

DOI:
10.1007/s10048-014-0426-9

PMCID:
PMC4284369

PMID:
25342198

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Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"This study was supported by a grant of the Polish Ministry of Science and Higher Education (NN 402 27 63 36) to AK and by a Discovery Grant (Natural Science and Engineering Research Council (NSERC) of Canada) to C.R.B. We are grateful to the patients and their families for excellent collaboration during this study."

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Last Updated: Aug 05, 2025