The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

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Brent Ewing, LaDeana Hillier, Michael C. Wendl et al. · Genome Research · 1998 · 7K citations · Full text

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The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

Hisahiro Yoshida, Shinichi Hayashi, Takahiro Kunisada et al. · Nature · 1990 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

Colin A. Hodgkinson, Karen J. Moore, Atsuo Nakayama et al. · Cell · 1993 · 1.1K citations

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Autosomal Recessive Osteopetrosis: Variability of Findings at Diagnosis and During the Natural Course

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Medicine, Hematology, Pediatrics +12

BONE-MARROW TRANSPLANTATION FOR IMMUNODEFICIENCIES AND OSTEOPETROSIS: EUROPEAN SURVEY, 1968-1985

Alain Fischer, W Friedrich, R J Levinsky et al. · The Lancet · 1986 · 196 citations

Medicine, Immunology, Surgery +10