| Authors | Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann Moser, Ok-Hwa Kim, Tae-Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong-Kyu Jin, Hiroshi Kitoh, Woong-Yang Park, Hua Ling, Kurt N Hetrick, Kimberly F Doheny, David Valle, Richard M Pauli |
| Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 94
Issue 1
Pg. 105-12
(Jan 02 2014)
ISSN: 1537-6605 [Electronic] United States |
| PMID | 24387990
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- Phosphatidylcholines
- Choline-Phosphate Cytidylyltransferase
- PCYT1A protein, human
|
| Topics |
- Alleles
- Child, Preschool
- Choline-Phosphate Cytidylyltransferase
(genetics, metabolism)
- Female
- Humans
- Infant
- Male
- Middle Aged
- Mutation, Missense
- Osteochondrodysplasias
(genetics)
- Pedigree
- Phosphatidylcholines
(metabolism)
- Retinitis Pigmentosa
(genetics)
|
