Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

Haemophilia. 2018 Jan;24(1):e18-e22. doi: 10.1111/hae.13365. Epub 2017 Nov 9.

Authors

D Böckelmann¹, A Naz², M Y J Siddiqi², E Lerner¹, K Sandrock-Lang¹, T S Shamsi², B Zieger¹

Affiliations

¹ Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
² National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan.

PMID: 29119711
DOI: 10.1111/hae.13365

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Amino Acid Sequence
Base Sequence
Bernard-Soulier Syndrome / genetics*
Bernard-Soulier Syndrome / metabolism*
Child
Female
Humans
Male
Mutation*
Pakistan
Platelet Glycoprotein GPIb-IX Complex / chemistry
Platelet Glycoprotein GPIb-IX Complex / genetics*

Substances

Platelet Glycoprotein GPIb-IX Complex
adhesion receptor