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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SM...
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| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6800092/ https://ncbi.nlm.nih.gov/pubmed/31243061 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106168 |
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