TY  - GEN
AU  - Quintana,Anita M
AU  - Yu,Hung-Chun
AU  - Brebner,Alison
AU  - Pupavac,Mihaela
AU  - Geiger,Elizabeth A
AU  - Watson,Abigail
AU  - Castro,Victoria L
AU  - Cheung,Warren
AU  - Chen,Shu-Huang
AU  - Watkins,David
AU  - Pastinen,Tomi
AU  - Skovby,Flemming
AU  - Appel,Bruce
AU  - Rosenblatt,David S
AU  - Shaikh,Tamim H
TI  - Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
SN  - 1460-2083
PY  - 2018///0108
KW  - Animals
KW  - Base Sequence
KW  - Branchial Region
KW  - metabolism
KW  - Cell Differentiation
KW  - Child
KW  - Craniofacial Abnormalities
KW  - genetics
KW  - Fibroblasts
KW  - Gene Expression Regulation
KW  - Host Cell Factor C1
KW  - chemistry
KW  - Humans
KW  - Mutation
KW  - Primary Cell Culture
KW  - Repressor Proteins
KW  - Transcription, Genetic
KW  - Vitamin B 12
KW  - Zebrafish
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1093/hmg/ddx157
ER  -