Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Katarina, Ellnebo"'
Publikováno v:
Molecular Syndromology. 10:281-285
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Saskia Biskup, Anna Gréen, Alexander Pepler, Katarina Ellnebo, Johan Wahlström, Hartmut Vogt, Jon Jonasson, Anna Sandestig, Margarita Stefanova
Publikováno v:
Molecular Syndromology. 9:259-265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Publikováno v:
Mol Syndromol
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Anna, Sandestig, Anna, Green, Jon, Jonasson, Hartmut, Vogt, Johan, Wahlström, Alexander, Pepler, Katarina, Ellnebo, Saskia, Biskup, Margarita, Stefanova
Publikováno v:
Molecular syndromology. 9(5)
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Publikováno v:
Molecular Biotechnology. 26:87-90
We describe a novel polymerase chain reaction (PCR) and deoxyribonucleic acid (DNA) sequencingbased assay for rapid genotyping of the polymorphic Sp1 binding site in the COL1A1 gene (1). A single nucleotide G--T substitution polymorphism at this GC-r
Autor:
Jon G. Jonasson, Margaretha Olofsson, Katarina Ellnebo-Svedlund, Niclas Grahn, Hans Jürg Monstein
Publikováno v:
FEMS Microbiology Letters. 219:87-91
Using a sensitive and rapid method combining broad-range PCR amplification of bacterial 16S rDNA fragments and pyrosequencing for detection, identification and typing, we have found contaminating bacterial DNA in our reagents used for PCR. Identified
Publikováno v:
Helicobacter. 7:287-296
Background. In recent years, numerous PCR amplification typing methods have been developed for the identification of H. pylori specific virulence genes. To reduce the number of PCR amplifications needed we have previously developed virulence gene bas