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Titolo:
THE GENE FOR DIFFUSE PALMOPLANTAR KERATODERMA OF THE TYPE FOUND IN NORTHERN SWEDEN IS LOCALIZED TO CHROMOSOME 12Q11-Q13
Autore:
LIND L; LUNDSTROM A; HOFER PA; HOLMGREN G;
Indirizzi:
UMEA UNIV HOSP,DEPT CLIN GENET APPL CELL & MOLEC BIOL S-90185 UMEA SWEDEN UMEA UNIV HOSP,DEPT DERMATOL S-90185 UMEA SWEDEN
Titolo Testata:
Human molecular genetics
fascicolo: 10, volume: 3, anno: 1994,
pagine: 1789 - 1793
SICI:
0964-6906(1994)3:10<1789:TGFDPK>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
KERATIN INTERMEDIATE FILAMENTS; SKIN DISEASES; DIFFERENTIATION; FAMILY; EXPRESSION; VORNER; MAP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
L. Lind et al., "THE GENE FOR DIFFUSE PALMOPLANTAR KERATODERMA OF THE TYPE FOUND IN NORTHERN SWEDEN IS LOCALIZED TO CHROMOSOME 12Q11-Q13", Human molecular genetics, 3(10), 1994, pp. 1789-1793

Abstract

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3 - 0.55%. We have examined two families with this type of palmoplantar keratoderma and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retinoic acid receptor gamma gene. The palmoplantar keratoderma variant investigated in this study is thus genetically different from epidermolytic palmoplantar keratoderma, which recently has been shown to result from mutations in the gene for the type I keratin 9.

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Documento generato il 26/09/20 alle ore 13:27:54