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2. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. Cserhalmi PB; Horvath A; Boros V; Sapi Z; Kormendi M; Christiano AM; Karpati S Exp Dermatol; 1997 Apr; 6(2):70-4. PubMed ID: 9209887 [TBL] [Abstract][Full Text] [Related]
3. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. Pulkkinen L; Meneguzzi G; McGrath JA; Xu Y; Blanchet-Bardon C; Ortonne JP; Christiano AM; Uitto J J Invest Dermatol; 1997 Aug; 109(2):232-7. PubMed ID: 9242513 [TBL] [Abstract][Full Text] [Related]
4. 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]
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11. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Pulkkinen L; Cserhalmi-Friedman PB; Tang M; Ryan MC; Uitto J; Christiano AM Lab Invest; 1998 Sep; 78(9):1067-76. PubMed ID: 9759651 [TBL] [Abstract][Full Text] [Related]
16. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. McGrath JA; Kivirikko S; Ciatti S; Moss C; Dunnill GS; Eady RA; Rodeck CH; Christiano AM; Uitto J Genomics; 1995 Sep; 29(1):282-4. PubMed ID: 8530087 [TBL] [Abstract][Full Text] [Related]
17. Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. Kittridge A; Patel R; Novoa R; Tamburro J Pediatr Dermatol; 2014; 31(4):530-2. PubMed ID: 23278291 [TBL] [Abstract][Full Text] [Related]
18. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Pulkkinen L; Bullrich F; Czarnecki P; Weiss L; Uitto J Am J Hum Genet; 1997 Sep; 61(3):611-9. PubMed ID: 9326326 [TBL] [Abstract][Full Text] [Related]