OMIM/604592[Secondary Source ID] - Search Results

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2001	1
2004	2
2025	0

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Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Bénichou O, et al. Am J Hum Genet. 2001 Sep;69(3):647-54. doi: 10.1086/323132. Epub 2001 Jul 23. Am J Hum Genet. 2001. PMID: 11468688 Free PMC article.

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C. Ramírez A, et al. Hum Mutat. 2004 May;23(5):471-6. doi: 10.1002/humu.20028. Hum Mutat. 2004. PMID: 15108279

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F. Susani L, et al. Hum Mutat. 2004 Sep;24(3):225-35. doi: 10.1002/humu.20076. Hum Mutat. 2004. PMID: 15300850

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