Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation.
Abinun
Mario
M
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
Pieniazek
Piotr
P
D003241:Consanguinity; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000628:therapy*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
C472421:TCIRG1 protein, human; D025262:Vacuolar Proton-Translocating ATPases