Detailed Information
Cited 41 time in 
Cited 43 time in 
Cited 43 time in
Metadata Downloads
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
- Authors
- Hoover-Fong, J[Hoover-Fong, Julie]; Sobreira, N[Sobreira, Nara]; Jurgens, J[Jurgens, Julie]; Modaff, P[Modaff, Peggy]; Blout, C[Blout, Carrie]; Moser, A[Moser, Ann]; Kim, OH[Kim, Ok-Hwa]; Cho, TJ[Cho, Tae-Joon]; Cho, SY[Cho, Sung Yoon]; Kim, SJ[Kim, Sang Jin]; Jin, DK[Jin, Dong-Kyu]; Kitoh, H[Kitoh, Hiroshi]; Park, WY[Park, Woong-Yang]; Ling, H[Ling, Hua]; Hetrick, KN[Hetrick, Kurt N.]; Doheny, KF[Doheny, Kimberly F.]; Valle, D[Valle, David]; Pauli, RM[Pauli, Richard M.]
- Issue Date
- 2-Jan-2014
- Publisher
- CELL PRESS
- Citation
- AMERICAN JOURNAL OF HUMAN GENETICS, v.94, no.1, pp.105 - 112
- Indexed
- SCIE
SCOPUS
- Journal Title
- AMERICAN JOURNAL OF HUMAN GENETICS
- Volume
- 94
- Number
- 1
- Start Page
- 105
- End Page
- 112
- ISSN
- 0002-9297
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
Related Researcher
- PARK, WOONG YANG
- Medicine (Medicine)