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Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings
We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously descri...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6375722/ https://ncbi.nlm.nih.gov/pubmed/30775052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1670724 |
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