Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease. [electronic resource]
Producer: 20151019Description: 77 p. digitalISSN:- 1471-2350
- Chromosomes, Human, Pair 1 -- genetics
- Female
- Gene Duplication -- genetics
- Humans
- In Situ Hybridization, Fluorescence
- Magnetic Resonance Imaging
- Microarray Analysis
- Mutagenesis, Insertional -- genetics
- Myelin Proteolipid Protein -- genetics
- Pelizaeus-Merzbacher Disease -- genetics
- 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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