An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene that encodes the CNP receptor NPR2 (natriuretic peptide receptor 2). When expressed in HEK293A cells, the mutant Npr2 cDNA generated intrace...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Miura, Kohji, Namba, Noriyuki, Fujiwara, Makoto, Ohata, Yasuhisa, Ishida, Hidekazu, Kitaoka, Taichi, Kubota, Takuo, Hirai, Haruhiko, Higuchi, Chikahisa, Tsumaki, Noriyuki, Yoshikawa, Hideki, Sakai, Norio, Michigami, Toshimi, Ozono, Keiichi
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2012
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3411678/
https://ncbi.nlm.nih.gov/pubmed/22870295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0042180
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים