The novel p.Ser263Phe mutation in the human high‐affinity...

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Human Mutation 2019 / 07

The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/ SLC5A7 ) causes a lethal form of fetal akinesia syndrome

Banerjee, Mayukh, Arutyunov, Denis, Brandwein, Daniel, Janetzki‐Flatt, Cassandra, Kolski, Hanna, Hume, Stacey, Leonard, Norma Jean, Watt, James, Lacson, Atilano, Baradi, Monica, Leslie, Elaine M., Cor
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23828
Date:
July, 2019
File:
PDF, 943 KB
english, 2019
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