Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt
D
D
Department of Human Genetics, Philipp University, Marburg, Germany.
König
A
A
Happle
R
R
Leveleki
L
L
Bittar
M
M
Danarti
R
R
Vahlquist
A
A
Tilgen
W
W
Reinhold
U
U
Poiares Baptista
A
A
Grosshans
E
E
Vabres
P
P
Niiyama
S
S
Sasaoka
K
K
Tanaka
T
T
Meiss
A L
AL
Treadwell
P A
PA
Lambert
D
D
Camacho
F
F
Grzeschik
K-H
KH
D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000293:Adolescent; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D009506:Nevus / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017384:Sequence Deletion
D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human