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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 |
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| Authors: | L Pulkkinen L Bruckner-Tuderman C August J Uitto |
| Affiliation: | Department of Health Sciences Research and Medical Genetics, Mayo Clinic, Rochester, MN, USA. schaid@mayo.edu |
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