
IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response
Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño,Volume:
84
Année:
2009
Langue:
english
Pages:
9
DOI:
10.1016/j.ajhg.2009.03.014
Fichier:
PDF, 1022 KB
english, 2009