1. Mutational spectrum of NSDHL in CHILD syndrome.
- Author
-
Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, and Grzeschik KH
- Subjects
- Adolescent, Amino Acid Sequence, DNA Mutational Analysis, Female, Humans, Ichthyosis diagnosis, Limb Deformities, Congenital diagnosis, Molecular Sequence Data, Mutation, Missense, Nevus diagnosis, Point Mutation, Polymorphism, Single Nucleotide, Sequence Alignment, Sequence Deletion, 3-Hydroxysteroid Dehydrogenases genetics, Ichthyosis genetics, Limb Deformities, Congenital genetics, Mutation, Nevus genetics
- Published
- 2005
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