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

Quintana, Anita M

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. [electronic resource] - Human molecular genetics 08 2017 - 2838-2849 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1460-2083

10.1093/hmg/ddx157 doi


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