| 1 | OBS10, PCSK1
|
| A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
|
| Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R.
|
| J Clin Endocrinol Metab. Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854 2019
|
| 2 | OBS10, PCSK1
|
| A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
|
| Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O.
|
| PLoS One. Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014 2014
|
| 3 | MODY6, NEUROD1, OBS10, PCSK1
|
| Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification.
|
| McCarthy MI.
|
| Hum Mol Genet 13 Spec No 1:R33-41. Epub 2004 Jan 13. 2004
|
| 4 | OBS10, PCSK1
|
| Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
| Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S.
|
| Nat Genet 16(3):303-6. 1997
|