R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family.
Bulman
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MP
Ellard
S
S
Hattersley
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AT
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D017124:Conserved Sequence; D004268:DNA-Binding Proteins / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D051557:Hepatocyte Nuclear Factor 4; D006801:Humans; D008126:Lod Score; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D006113:United Kingdom; D044465:White People / Q000235:genetics*
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4; C403128:MLX protein, human; D010750:Phosphoproteins; D014157:Transcription Factors