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Carmela Beger
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Journal Articles

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

Inga Köllner, Beate Sodeik, Sabine Schreek, Holger Heyn, Nils von Neuhoff, Manuela Germeshausen, Cornelia Zeidler, Martin Krüger, Brigitte Schlegelberger, Karl Welte, Carmela Beger
Journal: Blood
Blood (2006) 108 (2): 493–500.
https://doi.org/10.1182/blood-2005-11-4689
Published: 2006
Includes: Supplemental data
Journal Articles

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

Johannes Jung, Georg Bohn, Anna Allroth, Kaan Boztug, Gudrun Brandes, Inga Sandrock, Alejandro A. Schäffer, Chozhavendan Rathinam, Inga Köllner, Carmela Beger, Reinhard Schilke, Karl Welte, Bodo Grimbacher, Christoph Klein
Journal: Blood
Blood (2006) 108 (1): 362–369.
https://doi.org/10.1182/blood-2005-11-4377
Published: 2006
Includes: Supplemental data
Journal Articles

Mutations in the Gene of Neutrophil Elastase Associated with Congenital Neutropenia Lead to Alteration of Intracellular Trafficking and Proteolytic Function of NE Protein.

Carmela Beger, MD, Inga Koellner, Cornelia Zeidler, MD, Manuela Germeshausen, PhD, Nils von Neuhoff, PhD, Brigitte Schlegelberger, MD, PhD, Karl Welte, MD, PhD
Journal: Blood
Blood (2004) 104 (11): 780.
https://doi.org/10.1182/blood.V104.11.780.780
Published: 2004