Avtor/Urednik		Liović, Mirjana; Podrumac, Božena; Dragoš, Vlasta; Vouk, Katja; Komel, Radovan
Naslov		K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)
Tip		članek
Vir		Hum Hered
Vol. in št.		Letnik 50, št. 4
Leto izdaje		2000
Obseg		str. 234-6
Jezik		eng
Abstrakt		A novel missense mutation was detected in the L12 region of keratin 5 (KS) in a Slovene family diagnosed with Weber-Cockayne variant of epidermolysis bullosa simplex (EBS- WC). Direct sequencing identified a heterozygous GAC to GAA substitution altering codon 328 of KS from Asp to Glu in all affected family members, while no mutation was observed either in the healthy individual or the 50 unrelated control samples. Asp 328 of KS (position 12 in the L12 domain) is remarkably conserved among all type II keratins. KS L12:D12E is the third mutation found to affect this residue in KS-related EBS, indicating the importance of Asp 328 for KS structure and the dramatic effect that fine changes can have on keratin intermediate filament integrity.
Deskriptorji		EPIDERMOLYSIS BULLOSA SIMPLEX KERATIN MUTATION INTERMEDIATE FILAMENTS ALLELES DNA MUTATIONAL ANALYSIS FAMILY PEDIGREE PHENOTYPE POLYMERASE CHAIN REACTION