Open AccessIdentification by whole genome sequencing of a 140Kb inversion in GNAS locus involving NPELP1 and Xlas gene in a family presenting an autosomal dominant pseudohypoparathyroidism type 1b
Author(s) -
A. Apetrei,
Arnaud Molin,
Cindy Colson,
H. Mittre,
Matthieu Décamp,
Nadia Coudray,
MarieLaure Kottler,
Nicolas Gruchy,
Nicolas Richard
Publication year - 2020
Publication title -
hal (le centre pour la communication scientifique directe)
Language(s) - English
Resource type - Conference proceedings
Subject(s) - gnas complex locus , pseudohypoparathyroidism , locus (genetics) , genetics , gene , computational biology , medicine , biology , parathyroid hormone , calcium