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2003 | 1 |
2022 | 1 |
2024 | 0 |
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Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Am J Med Genet A. 2022 Nov;188(11):3153-3161. doi: 10.1002/ajmg.a.62957. Epub 2022 Aug 18.
Am J Med Genet A. 2022.
PMID: 35979658
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J.
Kahofer P, et al.
Pediatr Dermatol. 2003 May-Jun;20(3):243-8. doi: 10.1046/j.1525-1470.2003.20312.x.
Pediatr Dermatol. 2003.
PMID: 12787275
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