Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. [electronic resource]
Producer: 20180108Description: 2838-2849 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
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