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Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency
Two families manifesting Glut1 deficiency syndrome (Glut1 DS) as an autosomal recessive trait are described. In one family, a severely affected boy inherited a mutated allele from his asymptomatic heterozygous mother. A de novo mutation developed in the paternal allele producing compound heterozygos...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2994988/ https://ncbi.nlm.nih.gov/pubmed/20687207 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.22088 |
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