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1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
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2004 (English)In: Eur J Hum Genet, ISSN 1018-4813, Vol. 12, no 10, 787-9 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2004. Vol. 12, no 10, 787-9 p.
Keyword [en]
Arginine/genetics, Female, Humans, Hypogonadism/genetics, Male, Mental Retardation; X-Linked/diagnosis/*genetics, Obesity/*genetics, Pedigree, Point Mutation/*genetics, Syndrome
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Medical Genetics
URN: urn:nbn:se:uu:diva-73150PubMedID: 15241480OAI: oai:DiVA.org:uu-73150DiVA: diva2:101061
Available from: 2005-06-01 Created: 2005-06-01 Last updated: 2011-01-12

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Bondeson, Marie-Louise
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