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A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations withi...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Croatian Society of Medical Biochemistry and Laboratory Medicine
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910280/ https://www.ncbi.nlm.nih.gov/pubmed/27346974 http://dx.doi.org/10.11613/BM.2016.031 |