The complete human NFH gene including 9.6 kb of 5' sequences and 13.4 kb of 3' sequences, coding for 43 Lys-Ser-Pro (KSP) phosphorylation sites, was used for the transgene. Expression of the human gene in transgenic animals was confirmed by Western blot analysis. (J:69179, J:69180)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count