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1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
- Lower, Karen M (author)
-
- Solders, Göran (author)
- Karolinska Institutet
-
- Bondeson, Marie-Louise (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Nelson, John (author)
- Crawford, Joanna (author)
- Börjeson, Mats (author)
- Turner, Gillian (author)
- Partington, Michael (author)
- Gecz, Jozef (author)
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- (creator_code:org_t)
- Springer Science and Business Media LLC, 2004
- 2004
- English.
- In: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 12:10, s. 787-9
- Journal article (peer-reviewed)
Subject headings
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Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Arginine/genetics
- Female
- Humans
- Hypogonadism/genetics
- Male
- Mental Retardation; X-Linked/diagnosis/*genetics
- Obesity/*genetics
- Pedigree
- Point Mutation/*genetics
- Syndrome
- Clinical genetics
- Klinisk genetik
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Lower, Karen M
- Solders, Göran
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- Nelson, John
- Brun, Arne
- Crawford, Joanna
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- Malm, Gunilla
- Börjeson, Mats
- Turner, Gillian
- Partington, Mich ...
- Gecz, Jozef
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- MEDICAL AND HEALTH SCIENCES
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- and Basic Medicine
- and Medical Genetics
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- Eur J Hum Genet
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- Uppsala University
- Lund University
- Karolinska Institutet
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