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pro vyhledávání: '"Ozge K Karalar"'
Autor:
Kisa, Pelin Teke, Hismi, Burcu Ozturk, Kocabey, Mehmet, Gulten, Zumrut Arslan, Huddam, Bulent, Ekinci, Selim, Bozkaya, Evrim, Akar, Harun, Pekuz, Ozge K. Karalar, Aydogan, Ayca, Arslan, Nur
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-11, 11p
Autor:
Noriko Miyake, Mert Osman Topkar, Gen Nishimura, Long Guo, Ozge K Karalar, Naomichi Matsumoto, Zheng Wang, Nursel Elcioglu, Shiro Ikegawa, Yuma Sakamoto
Publikováno v:
Journal of human genetics. 63(6)
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d942959ff438ae5f38fdd0b7045d0f
https://pubmed.ncbi.nlm.nih.gov/29568001
https://pubmed.ncbi.nlm.nih.gov/29568001