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Expansion of the genetic landscape of ERLIN2‐related disorders
ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, a...
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| 發表在: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7187699/ https://ncbi.nlm.nih.gov/pubmed/32147972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51007 |
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