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

✍ Scribed by 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


Book ID
113422629
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
1022 KB
Volume
84
Category
Article
ISSN
0002-9297

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