https://scholars.lib.ntu.edu.tw/handle/123456789/353951
標題: | A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 gene | 作者: | MING CHEN | 公開日期: | 2009 | 卷: | 149 | 期: | 7 | 起(迄)頁: | 1550-1554 | 來源出版物: | American Journal of Medical Genetics, Part A | URI: | http://www.scopus.com/inward/record.url?eid=2-s2.0-67649889421&partnerID=MN8TOARS http://scholars.lib.ntu.edu.tw/handle/123456789/353951 |
DOI: | 10.1002/ajmg.a.32768 | SDG/關鍵字: | metalloproteinase; unclassified drug; uterus spasmolytic agent; zinc metallopeptidase ZMPSTE24; amniocentesis; amnion fluid; Apgar score; autopsy; autosomal disorder; case report; chorioamniotic membrane separation; clinical examination; clinical feature; desquamation; disease association; disease course; disease severity; disease surveillance; DNA extraction; female; fetus distress; fetus heart rate; fetus movement; genetic heterogeneity; histopathology; human; infant; joint contracture; letter; molecular genetics; nonsense mutation; oligohydramnios; premature fetus membrane rupture; priority journal; respiratory failure; restrictive dermopathy; skin biopsy; skin disease; tocolysis; X ray film; Amnion; Chorion; Codon, Nonsense; Fatal Outcome; Female; Fetal Membranes, Premature Rupture; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Membrane Proteins; Metalloendopeptidases; Pregnancy; Skin Diseases, Genetic |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。