Autosomal recessive osteopetrosis in Chuvashiya

Genetika

Volumn 37, Issue 8, 2001, Pages 1152-1155

  Ginter, E K ^a   Kirillov, A G ^b   Rogaev, E I ^c  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b Republican Children's Hospital   (Russian Federation)

^c MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ALBERS SCHOENBERG DISEASE; ARTICLE; EPIDEMIOLOGY; GENETICS; HETEROZYGOTE; HUMAN; NEWBORN; RECESSIVE GENE; RUSSIAN FEDERATION;

EPIDEMIOLOGY, MOLECULAR; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; OSTEOPETROSIS; RUSSIA;

EID: 0035432836     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. OMIM - On Line Mendelian Inheritance in Man: http/www.nlm.nih.gov/OMIM.
2. Bollersev J. Osteopetrosis: a genetic and epidemiological study // Clin. Genet. 1987. V. 31. P. 86-90.
3. Loria-Cortes R., Quesada-Calvo E., Cordero-Chaverri E. Osteopetrosis in children: a report of 26 cases // J. Pediat. 1977. V. 91. P. 43-47.
4. Fisher R.A. The effect of methods of ascertainment upon the estimation of frequencies // Ann. Eugen. 1934. V. 6. P. 13-25.
5. Morton N.E. Genetic tests under incomplete ascertainment//Am. J. Hum. Genet. 1959. V. 11. P. 1-16.
6. Hackam AS. Breaking the law: the molecular basis of non-Mendelian transmission // Clin. Genet. 2000. V. 57. P. 173-175.
7. Günther T., Schinke T. Mouse genetics have uncovered new paradigms in bone biology // TEM. 2000. V. 11. P. 189-193.
8. Yoshida H., Hayashi S.-I., Kunisada T. et al. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene // Nature. 1990. V. 345. P. 442-444.
9. HeaneyC., CarmiR.,DushkinH. etal. Genetic mapping of recessive osteopetrosis to 1 Iql2-13. (Abstract) //Am. J. Hum Genet. 1997. V. 61 (Suppl.). P. A12.
10. Heaney C., Shalev H., Elbedour K. et al. Human autosomal recessive osteopetrosis maps to Ilql3, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation // Hum. Molec. Genet. 1998. V. 7. P. 1407-1410.
11. Frattini A., Orchard PJ., Sobacci C. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis // Nature Genet. 2000. V. 25. P. 343-346.
12. Heinemann T., Bulwin G.C., Randall J. et al. Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation // Genomics. 1999. V. 57. P. 398-406.
13. Utku N., Heinemann T., Tullius S.G. et al. Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein // Immunity. 1998. V. 9. P. 509-518.
14. Li Y.P., Chen W., Liang Y. et al. ATP6-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification // Nature Genet. 1999. V. 23. P. 447-451.