Title : A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Pub. Date : 2009 Dec

PMID : 20039262






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 All four affected children were homozygous for a nonsense mutation at glutamate 210 (E210X) in the NEFL gene; both parents were heterozygous carriers. Glutamic Acid neurofilament light chain Homo sapiens