ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. [electronic resource]
- Neuroscience Aug 2008
- 345-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0306-4522
10.1016/j.neuroscience.2008.05.030 doi
Adult Cell Line Chromosome Breakage Chromosomes, Human, Pair 3 Databases, Protein Female Hemangioma, Cavernous, Central Nervous System--genetics Humans Leukocytes, Mononuclear--cytology Magnetic Resonance Imaging Membrane Proteins--genetics Phenotype Primary Ovarian Insufficiency--complications RNA, Messenger--metabolism Signal Transduction--physiology Translocation, Genetic X Chromosome Inactivation--genetics