ABCC8 p.Pro1198Leu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 26621776
[PubMed]
Cooper PE et al: "Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel."
No.
Sentence
Comment
240
Science. 245:177-180. http://dx.doi.org/10.1126/science.2501869 Takagi, T., H. Furuta, M. Miyawaki, K. Nagashima, T. Shimada, A. Doi,S.Matsuno,D.Tanaka,M.Nishi,H.Sasaki,etal.2013.Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus.
X
ABCC8 p.Pro1198Leu 26621776:240:227
status: NEW