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6. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. Nakano A; Pfendner E; Hashimoto I; Uitto J J Invest Dermatol; 2000 Sep; 115(3):493-8. PubMed ID: 11023379 [TBL] [Abstract][Full Text] [Related]
7. Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations. Hou PC; Natsuga K; Tu WT; Huang HY; Chen B; Chen LY; Chen WR; Hong YK; Tang YA; Lee JY; Chen PC; Sun HS; McGrath JA; Hsu CK Acta Derm Venereol; 2021 Aug; 101(8):adv00522. PubMed ID: 34231856 [No Abstract] [Full Text] [Related]
8. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Mellerio JE; Eady RA; Atherton DJ; Lake BD; McGrath JA Br J Dermatol; 1998 Aug; 139(2):325-31. PubMed ID: 9767254 [TBL] [Abstract][Full Text] [Related]
9. Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. Takizawa Y; Hiraoka Y; Takahashi H; Ishiko A; Yasuraoka I; Hashimoto I; Aiso S; Nishikawa T; Shimizu H J Invest Dermatol; 2000 Aug; 115(2):312-6. PubMed ID: 10951252 [TBL] [Abstract][Full Text] [Related]
10. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327 [TBL] [Abstract][Full Text] [Related]
11. Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. Hammersen J; Has C; Naumann-Bartsch N; Stachel D; Kiritsi D; Söder S; Tardieu M; Metzler M; Bruckner-Tuderman L; Schneider H J Invest Dermatol; 2016 Nov; 136(11):2150-2157. PubMed ID: 27375110 [TBL] [Abstract][Full Text] [Related]
12. Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. Pulkkinen L; Uitto J J Invest Dermatol; 1998 Dec; 111(6):1244-6. PubMed ID: 9856855 [No Abstract] [Full Text] [Related]
13. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. Vailly J; Pulkkinen L; Miquel C; Christiano AM; Gerecke D; Burgeson RE; Uitto J; Ortonne JP; Meneguzzi G J Invest Dermatol; 1995 Apr; 104(4):462-6. PubMed ID: 7706759 [TBL] [Abstract][Full Text] [Related]
14. Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. Jeon IK; Kim SE; Kim SC J Dermatol; 2014 Apr; 41(4):322-4. PubMed ID: 24533970 [TBL] [Abstract][Full Text] [Related]
15. Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. Takizawa Y; Shimizu H; Pulkkinen L; Suzumori K; Kakinuma H; Uitto J; Nishikawa T J Invest Dermatol; 1998 Dec; 111(6):1239-41. PubMed ID: 9856852 [No Abstract] [Full Text] [Related]
16. Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa. Tan EC; Diana IA; Wei H; Gondokaryono SP; Dwiyana RF; Yogya Y; Rahardja JI; Koh MJ Australas J Dermatol; 2022 Nov; 63(4):e365-e369. PubMed ID: 36057924 [No Abstract] [Full Text] [Related]
17. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915 [TBL] [Abstract][Full Text] [Related]
18. Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa. Mittwollen R; Wohlfart S; Park J; Grosch E; Has C; Hohenester E; Schneider H; Hammersen J J Eur Acad Dermatol Venereol; 2020 Sep; 34(9):2127-2134. PubMed ID: 32124492 [TBL] [Abstract][Full Text] [Related]
19. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Pulkkinen L; Christiano AM; Gerecke D; Wagman DW; Burgeson RE; Pittelkow MR; Uitto J Genomics; 1994 Nov; 24(2):357-60. PubMed ID: 7698759 [TBL] [Abstract][Full Text] [Related]
20. Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. Cserhalmi-Friedman PB; Baden H; Burgeson RE; Christiano AM Exp Dermatol; 1998; 7(2-3):105-11. PubMed ID: 9583749 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]