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A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a single nucleotide substitution of G-->A was identified at codon 113 of the patient's SRY gene, resulting in a conservativ...
Sparad:
| I publikationen: | J Med Genet |
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| Huvudupphovsmän: | , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BMJ Publishing Group
1993
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016493/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8105086/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.655 |
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