作者：Berta Almoguera (1)
Sijie He (2) (3)
Marta Corton (4) (5)
Patricia Fernandez-San Jose (4) (5)
Fiona Blanco-Kelly (4) (5)
Maria Isabel L贸pez-Molina (5) (6)
Blanca Garc铆a-Sandoval (5) (6)
Javier del Val (7)
Yiran Guo (1)
Lifeng Tian (1)
Xuanzhu Liu (3)
Liping Guan (3)
Rosa J Torres (8)
Juan G Puig (9)
Hakon Hakonarson (1)
Xun Xu (10) (3)
Brendan Keating (1)
Carmen Ayuso (4) (5)

1. Center for Applied Genomics ; The Children鈥檚 Hospital of Philadelphia ; Philadelphia ; PA ; 19104 ; USA
2. College of Life Sciences ; University of Chinese Academy of Sciences ; Beijing ; 100049 ; China
3. BGI-Shenzhen ; Shenzhen ; 518083 ; China
4. Department of Genetics and Genomics ; IIS-Fundaci贸n Jim茅nez D铆az University Hospital (IISFJD ; UAM) ; 28040 ; Madrid ; Spain
5. Center for Biomedical Network Research on Rare Diseases (CIBERER) ; ISCIII ; Madrid ; Spain
6. Department of Ophthalmology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
7. Department of Neurology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
8. Department of Biochemistry ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
9. Department of Internal Medicine ; Metabolic-Vascular Unit ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
10. The Guangdong Enterprise Key Laboratory of Human Disease Genomics ; Shenzhen ; China

关键词：PRPS1 ; Retinitis pigmentosa ; Non ; random X ; chromosome inactivation ; Phosphoribosyl pyrophosphate synthetase deficiency ; Neuropathy

刊名：Orphanet Journal of Rare Diseases

出版年：2014