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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Petersen, M B, Tranebjaerg, L, Tommerup, N, Nygaard, P, Edwards, H
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1987
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049896/
https://ncbi.nlm.nih.gov/pubmed/3560174
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