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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Gilfillan, Gregor D. (author)
- Selmer, Kaja K. (author)
- Roxrud, Ingrid (author)
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- Smith, Raffaella (author)
- Eiklid, Kristin (author)
- Kroken, Mette (author)
- Mattingsdal, Morten (author)
- Egeland, Thore (author)
- Stenmark, Harald (author)
- Sjoholm, Hans (author)
- Server, Andres (author)
- Christianson, Arnold (author)
- Tarpey, Patrick (author)
- Whibley, Annabel (author)
- Stratton, Michael R. (author)
- Futreal, P. Andrew (author)
- Teague, Jon (author)
- Edkins, Sarah (author)
- Gecz, Jozef (author)
- Turner, Gillian (author)
- Raymond, F. Lucy (author)
- Schwartz, Charles (author)
- Stevenson, Roger E. (author)
- Undlien, Dag E. (author)
- Stromme, Petter (author)
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- (creator_code:org_t)
- Elsevier BV, 2008
- 2008
- English.
- In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 82:4, s. 1003-1010
- Journal article (peer-reviewed)
Subject headings
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Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- na+/h+ exchanger isoforms
- recycling endosomes
- diagnostic-criteria
- genes
- nhe1
- identification
- plasticity
- localizes
- consensus
- membrane
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Gilfillan, Grego ...
- Selmer, Kaja K.
- Roxrud, Ingrid
- Smith, Raffaella
- Kyllerman, Mårte ...
- Eiklid, Kristin
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- Kroken, Mette
- Mattingsdal, Mor ...
- Egeland, Thore
- Stenmark, Harald
- Sjoholm, Hans
- Server, Andres
- Samuelsson, Lena ...
- Christianson, Ar ...
- Tarpey, Patrick
- Whibley, Annabel
- Stratton, Michae ...
- Futreal, P. Andr ...
- Teague, Jon
- Edkins, Sarah
- Gecz, Jozef
- Turner, Gillian
- Raymond, F. Lucy
- Schwartz, Charle ...
- Stevenson, Roger ...
- Undlien, Dag E.
- Stromme, Petter
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- University of Gothenburg
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