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New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
A karyotype 46,XY,del(20)(q11 X 23q13 X 11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previousl...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
1987
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049896/ https://ncbi.nlm.nih.gov/pubmed/3560174 |
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