Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Kornak U; Schulz A; Friedrich W; Uhlhaas S; Kremens B; Voit T; Hasan C; Bode U; Jentsch TJ; Kubisch C; Human Molecular Genetics, 2000, vol. 9, issue 13, p 2059, ISSN 09646906. ISBN 09646906.

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