Condition: Proprotein Convertase 1 3 Deficiency


rs137852821 in LOC101929710;PCSK1 gene and Proprotein Convertase 1 3 Deficiency PMID 9207799 1997 Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

PMID 17595246 2007 Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

PMID 14617756 2003 Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.