Associated Papers
Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability.
Tongsook C et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Heidari A et al.
Human Molecular Genetics, 2015
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