Avtor/Urednik     Kansky, A; Tomić, S
Naslov     Advances in genetics of interest to dermatologists: part I
Tip     članek
Vir     Acta Dermatovenerol Alp Panon Adriat
Vol. in št.     Letnik 1, št. 1
Leto izdaje     1992
Obseg     str. 20-6
Jezik     eng
Abstrakt     The rapid expansion of recombinant DNA technology have made it possible to understand the essential molecular pathology in a number of diseases. For certain genodermatoses defective genes related to clinical phenotype are relatively good investigated: localization on chromosomes, as well as certain products of these genes. The following disorders are reviewed: epidermolysis bullosa hereditaria simplex, ichthyoses, epidermolysis bullosa heraditaria dystrophica, cutis hyperalastica, albinism, piebaldism, xeroderma pigmentosum, incontinentia pigmenti and neurofibromatosis. Although the laboratory achievements in molecular biology do not at present offer therapeutical solutions for clinical problems, a practical application semens probable in the future.
Deskriptorji     SKIN DISEASES
KERATOSIS
ALBINISM
EPIDERMOLYSIS BULLOSA DYSTROPHICA
EHLERS-DANLOS SYNDROME
PIGMENTATION DISORDERS
NEUROFIBROMATOSIS 1