|
1
|
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
|
Am J Hum Genet
|
2005
|
1.97
|
|
2
|
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
|
J Invest Dermatol
|
2006
|
1.12
|
|
3
|
ABCA12 is the major harlequin ichthyosis gene.
|
J Invest Dermatol
|
2006
|
1.08
|
|
4
|
Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
|
Am J Pathol
|
2009
|
0.92
|
|
5
|
Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.
|
Dis Model Mech
|
2012
|
0.80
|
|
6
|
SPINK5: both rare and common skin disease.
|
Trends Mol Med
|
2002
|
0.79
|