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early infantile epileptic encephalopathy
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Journal Articles

STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a

Dorothee van Breevoort, Ambrosius P. Snijders, Nicola Hellen, Sarah Weckhuysen, Kathinka W. E. M. van Hooren, Jeroen Eikenboom, Karine Valentijn, Mar Fernandez-Borja, Berten Ceulemans, Peter De Jonghe, Jan Voorberg, Matthew Hannah, Tom Carter, Ruben Bierings
Journal: Blood
Blood (2014) 123 (20): 3185–3194.
https://doi.org/10.1182/blood-2013-10-535831
Published: 2014
Includes: Supplemental data
Journal Articles

Inherited GPI-Anchor Deficiencies Caused By The Hypomorphic Mutations In PIG A gene: Comparison To Paroxysmal Nocturnal Hemogrobinuria

Yoshiko Murakami, MD, PhD, Mitsuhiro Kato, Hirotomo Saitsu, Kenjiro Kikuchi, Shuei Watanabe, Mizue Iai, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Shin-ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Naomichi Matsumoto, Taroh Kinoshita, PhD
Journal: Blood
Blood (2013) 122 (21): 3701.
https://doi.org/10.1182/blood.V122.21.3701.3701
Published: 2013