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24. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Pulkkinen L; Rouan F; Bruckner-Tuderman L; Wallerstein R; Garzon M; Brown T; Smith L; Carter W; Uitto J Am J Hum Genet; 1998 Nov; 63(5):1376-87. PubMed ID: 9792864 [TBL] [Abstract][Full Text] [Related]
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36. Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence. Shimizu H; Suzumori K; Hatta N; Nishikawa T Arch Dermatol; 1996 Aug; 132(8):919-25. PubMed ID: 8712842 [TBL] [Abstract][Full Text] [Related]
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38. First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation. Ozge A; Safak H; Ebru H; Evrim U; Bilge SE; Leyla O; Kemal KA; Volkan B J Assist Reprod Genet; 2012 Apr; 29(4):347-52. PubMed ID: 22354727 [No Abstract] [Full Text] [Related]
39. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Pulkkinen L; Bruckner-Tuderman L; August C; Uitto J Am J Pathol; 1998 Apr; 152(4):935-41. PubMed ID: 9546354 [TBL] [Abstract][Full Text] [Related]
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