Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 08 01; 26(15):2838-2849.

View in: PubMed

subject areas

Animals
Base Sequence
Branchial Region
Cell Differentiation
Child
Craniofacial Abnormalities
Fibroblasts
Gene Expression Regulation
Host Cell Factor C1
Humans
Mutation
Repressor Proteins
Transcription, Genetic
Vitamin B 12
Zebrafish

authors with profiles

Anita Quintana

RCMI CC is supported by the National Institute on Minority Health and Health Disparities, National Institutes of Health (NIH), through Grant Number U24MD015970. The contents of this site are solely the responsibility of the authors and do not necessarily represent the official views of the NIH

For technical support please contact support