Avtor/Urednik		Tomić, S; Komel, R; Kansky, A; Blumenberg, M
Naslov		Keratin 5 associated restriction fragment length polymorphism in patients with palmoplantar keratoderma of Unna-Thost type
Tip		članek
Vir		Acta Dermatovenerol Alp Panon Adriat
Vol. in št.		Letnik 1, št. 4
Leto izdaje		1992
Obseg		str. 114-8
Jezik		eng
Abstrakt		Hereditary palmoplantar keratodermas of the Unna-Thost type (HPPK-UT) are relatively frequent among the Slovenian and Croatian population. Members of two Slovenian families (33 persons altogether) were investigated for RF1.P (restriction fragment length polymorphism). RFLP of the patients DNA was studied by applying the following endonucleases: Hind III, Taq I, EcoRl, Sac I, BamHI and Msp I. Only digestion with Msp I produced four polymorphic fragments which were identified as a, b, c and d alleles ofkeratin 5.14 out of 15 affected persons expressed the d allele in a heterozygous or homozygous way. In a number of unaffected members the d allele was also present.
Deskriptorji		KERATODERMA, PALMOPLANTAR KERATIN