P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
P4HA1 突变会导致一种独特的先天性结缔组织疾病，涉及肌腱、骨骼、肌肉和眼睛
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddx110
Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A Deardorff, Ronald D Cohn, Wendy O DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C Marini, Johanna Myllyharju, Carsten G B
