ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. [electronic resource]
Producer: 20081203Description: 345-9 p. digitalISSN:- 0306-4522
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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