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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease...
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Foilsithe in: | Eur J Hum Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
Formáid: | Artigo |
Teanga: | Inglês |
Foilsithe: |
Nature Publishing Group
2015
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Ábhair: | |
Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795103/ https://ncbi.nlm.nih.gov/pubmed/25370043 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.243 |
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