Novel mutations in theTCIRG1gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis-Reference-Cited by-同舟云学术

Novel mutations in theTCIRG1gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

Published:2003-02 Issue:2 Volume:21 Page:151-157
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Scimeca Jean-Claude,Quincey Danielle,Parrinello Hugues,Romatet Delphine,Grosgeorge Josiane,Gaudray Patrick,Philip Nicole,Fischer Alain,Carle Georges F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

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3. Comparative mapping of two adjacent regions of MMU19 with their human counterpart on HSA11q13;Fernandes;Cytogenet Cell Genet,1998

4. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis;Frattini;Nat Genet,2000

5. Luminal acidification of diverse organelles by V-ATPase in animal cells;Futai;J Exp Biol 203 Pt,2000

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