A point mutation (U-to-C in miRNA, A-to-G in forward genomic) mutated a residue critical for mature microRNA expression. Northern blot analysis confirmed the absence of microRNA expression. Expression of Mir200a is normal. (J:199159)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count