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Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations
Objective: To describe the phenotypic features of an ethnically homogenous group of patients with Fanconi–Bickel syndrome harboring the p.R310X mutation. Methods: The study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi–Bickel syndrom...
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| Publié dans: | JIMD Rep |
|---|---|
| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer Berlin Heidelberg
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4270862/ https://ncbi.nlm.nih.gov/pubmed/24718840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_303 |
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