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Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
The gene for Charcot-Marie-Tooth disease type 1a (CMT1a) has been localised to chromosome 17p11.2. Locus D17S122 is recognised by the DNA probe pVAW409R3 which detects an MspI polymorphism with three alleles in the normal population. Subjects with CMT1a show evidence of trisomy for this region of ch...
Gorde:
| Argitaratua izan da: | J Med Genet |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Publishing Group
1992
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015813/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1552536/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.1.12 |
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