Author:
Bonapace Giuseppe,Moricca Maria Teresa,Talarico Valentina,Graziano Francesca,Pensabene Licia,Miniero Roberto
Publisher
Springer Science and Business Media LLC
Reference10 articles.
1. Balemans W, Van Wesenbeeck L, Van Hul W: A clinical and molecular overview of human osteopetroses. Calcif Tissue Int. 2005, 77: 263-264. 10.1007/s00223-005-0027-6.
2. Barvencik F, Kurth I, Koehne T, Sta'uber T, Zustin J, Tsiakas K, Ludwig CF, Beil T, Pesta J, Hahan M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsk T, Teti A, Schultz A, Schinke T, Amling M: CLCN7 and TCRG1 mutations differentially affect bone matrix mineralization in osteopterotic individuale.J of Bone Min Res 2013, doi:10.1002/jbmr.2100.,
3. Frattini A, Orchand PJ, Sobacchi C, Giliani , Abinum M, Mattsson JP, Feeling DJ, Anderson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A: Defects in TCRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recesseive osteopetrosis. Nat Genet. 2000, 25: 343-346. 10.1038/77131.
4. Superti Fuga A, Unger S: Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Gen. 2007, 143 (1): 1-18. 10.1002/ajmg.a.31483.
5. Kornak U, Schultz A, Friedrich W: Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet. 2009, 104: 2059-2063.
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