Title:

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Author:

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,Christian Weirich,Karl-Heinz Grzeschik

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

10 April 2009

Copyright © 2009, Elsevier

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