Title : Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

Pub. Date : 2011 May

PMID : 21541994






2 Functional Relationships(s)
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1 Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFbeta1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFbeta1, consistent with CED. Leucine transforming growth factor beta 1 Homo sapiens
2 Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFbeta1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFbeta1, consistent with CED. Leucine transforming growth factor beta 1 Homo sapiens