Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
Fetterman
C D
CD
Mirzayans
F
F
Walter
M A
MA
D019943:Amino Acid Substitution / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D051858:Forkhead Transcription Factors / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary
C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors