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Quoted phrase not found in phrase index: "Spondyloepimetaphyseal dysplasia, PAPSS2 type"
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Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V. Geneviève D, et al. Eur J Hum Genet. 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. Eur J Hum Genet. 2005. PMID: 15726110 Free article.
Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined entities. ...Similarities with DMC prompted us to test and eventually exclude the DMC gene, dymeclin, by direct sequencing. Similarly, we excl …
Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined en …
Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes.
Xu ZH, Freimuth RR, Eckloff B, Wieben E, Weinshilboum RM. Xu ZH, et al. Pharmacogenetics. 2002 Jan;12(1):11-21. doi: 10.1097/00008571-200201000-00003. Pharmacogenetics. 2002. PMID: 11773860
In humans, PAPS is synthesized from adenosine 5'-triphosphate (ATP) and inorganic sulfate (SO2-4) by two isoforms, PAPSS1 and PAPSS2. Rare mutations that inactivate PAPSS2 are associated with human spondyloepimetaphyseal dysplasia and murine brachymorp …
In humans, PAPS is synthesized from adenosine 5'-triphosphate (ATP) and inorganic sulfate (SO2-4) by two isoforms, PAPSS1 and PAPSS2. …