Á lódáil...
Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
BACKGROUND: Hearing loss is a genetically and phenotypically heterogenous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the post-lingual progressive hearing loss in two Iranian families. METHODS: We used OtoSCOPE, a next generation sequencing platform...
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| Foilsithe in: | J Med Genet |
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| Main Authors: | , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2018
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060001/ https://ncbi.nlm.nih.gov/pubmed/29703829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105349 |
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