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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
- Authors
- Hoover-Fong, J | Sobreira, N | Jurgens, J | Modaff, P | Moser, A | Kim, OH | Cho, TJ | Cho, SY | Kim, SJ | Jin, DK | Kitoh, H | Park, WY | Ling, H | Hetrick, KN | Doheny, KF | Valle, D | Pauli, RM
- Citation
- American journal of human genetics, 94(1). : 105-112, 2014
- Journal Title
- American journal of human genetics
- ISSN
- 0002-92971537-6605
- MeSH
- PMID
- 24387990
- Appears in Collections:
- Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
- Ajou Authors
- 김, 옥화
- Full Text Link
- Files in This Item:
- 24387990.pdfDownload
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