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6. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Milenkovic D; Chaffaux S; Taourit S; Guérin G Genet Sel Evol; 2003; 35(2):249-56. PubMed ID: 12633536 [TBL] [Abstract][Full Text] [Related]
14. Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate. Haskoloğlu Ş; Öztürk G; Deveci Demirbaş N; Akal C; İslamoğlu C; Baskın K; Heper A; Erdeve Ö; Ceylaner S; Doğu F; İkincioğulları A Am J Dermatopathol; 2024 Jul; 46(7):447-451. PubMed ID: 38648026 [TBL] [Abstract][Full Text] [Related]
15. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Yuen WY; Lemmink HH; van Dijk-Bos KK; Sinke RJ; Jonkman MF Br J Dermatol; 2011 Dec; 165(6):1314-22. PubMed ID: 21801158 [TBL] [Abstract][Full Text] [Related]
16. A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa. Kouno M; Ko R; Shimizu A; Ouchi T; Sueoka K; Masunaga T; Ishiko A Clin Exp Dermatol; 2011 Jun; 36(4):386-92. PubMed ID: 21198797 [TBL] [Abstract][Full Text] [Related]
17. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Graves KT; Henney PJ; Ennis RB Anim Genet; 2009 Feb; 40(1):35-41. PubMed ID: 19016681 [TBL] [Abstract][Full Text] [Related]
19. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. Mömke S; Kerkmann A; Wöhlke A; Ostmeier M; Hewicker-Trautwein M; Ganter M; Kijas J; ; Distl O PLoS One; 2011 May; 6(5):e18943. PubMed ID: 21573221 [TBL] [Abstract][Full Text] [Related]
20. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Kon A; Pulkkinen L; Hara M; Tamai K; Tagami H; Hashimoto I; Uitto J Hum Mutat; 1998; 12(4):288. PubMed ID: 10660342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]