Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
脆性角膜综合征中PRDM5基因的突变揭示了一条调控细胞外基质发育和维持的通路。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.05.007
Burkitt Wright, Emma M M; Spencer, Helen L; Daly, Sarah B; Manson, Forbes D C; Zeef, Leo A H; Urquhart, Jill; Zoppi, Nicoletta; Bonshek, Richard; Tosounidis, Ioannis; Mohan, Meyyammai; Madden, Colm; Dodds, Annabel; Chandler, Kate E; Banka, Siddharth; Au, Leon; Clayton-Smith, Jill; Khan, Naz; Biesecker, Leslie G; Wilson, Meredith; Rohrbach, Marianne; Colombi, Marina; Giunta, Cecilia; Black, Graeme C M