Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation

Arch Dis Child. 2010 Dec;95(12):984. doi: 10.1136/adc.2010.194928. Epub 2010 Sep 23.

Authors

Mario Abinun¹, Piotr Pieniazek

Affiliation

¹ Department of Paediatric Immunology, Bone Marrow Transplantation Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Westgate Road, Newcastle upon Tyne NE4 6BE, UK. mario.abinun@ncl.ac.uk

PMID: 20870624
DOI: 10.1136/adc.2010.194928

No abstract available

Publication types

Case Reports

MeSH terms

Consanguinity
Hematopoietic Stem Cell Transplantation / methods*
Humans
Infant
Male
Mutation*
Osteopetrosis / therapy*
Vacuolar Proton-Translocating ATPases / genetics*

Substances

TCIRG1 protein, human
Vacuolar Proton-Translocating ATPases