Title : SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Pub. Date : 2012 Mar

PMID : 21892769






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 A sporadic patient with severe CMT was homozygous for the c.250G > C (p.G84R) HSPB1 mutation which has previously been reported to cause autosomal dominant dHMN. dhmn heat shock protein family B (small) member 1 Homo sapiens