Title : A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.

Pub. Date : 2018 Oct

PMID : 30172469






1 Functional Relationships(s)
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1 One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143). Sodium solute carrier family 5 member 7 Homo sapiens