p phenotype

Common Name(s)

p phenotype

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "p phenotype" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "p phenotype" returned 50 free, full-text research articles on human participants. First 3 results:

Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
 

Author(s): Beáta Csányi, Lidia Hategan, Viktória Nagy, Izabella Obál, Edina T Varga, János Borbás, Annamária Tringer, Sabrina Eichler, Tamás Forster, Arndt Rolfs, Róbert Sepp

Journal: Int Heart J. 2017 May;58(3):454-458.

 

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report ...

Last Updated: 12 May 2017

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Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.
 

Author(s): Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd

Journal: Neurology. 2017 Apr;88(16):1520-1527.

 

To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation.

Last Updated: 23 Mar 2017

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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
 

Author(s): Philippine Eloy, Catherine Dehainault, Meriem Sefta, Isabelle Aerts, François Doz, Nathalie Cassoux, Livia Lumbroso le Rouic, Dominique Stoppa-Lyonnet, François Radvanyi, Gaël A Millot, Marion Gauthier-Villars, Claude Houdayer

Journal:

 

Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral ...

Last Updated: 1 Mar 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "p phenotype" returned 1 free, full-text review articles on human participants. First 3 results:

A hemolytic anti-LKE associated with a rare LKE-negative, "weak P" red blood cell phenotype: alloanti-LKE and alloanti-P recognize galactosylgloboside and monosialogalactosylgloboside (LKE) antigens.
 

Author(s): Laura Cooling, Louann R Dake, Donna Haverty, Nancy Mullis, Susie Ellis, James Shayman, W John Judd

Journal: Transfusion. 2015 Jan;55(1):115-28.

 

"Weak P" is a rare red blood cell (RBC) phenotype, characterized by a global decrease in P(k) and P antigens. We now describe a second weak P individual who also typed LKE-negative (LKE-N) and possessed a clinically significant anti-LKE.

Last Updated: 13 Jan 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

DNA Repair, p53 and Apoptosis Phenotypes in Lung Cancer
 

Status: Recruiting

Condition Summary: Lung Neoplasms

 

Last Updated: 22 Jul 2017

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Evaluation of Pupillometry for cyp2d6 Phenotyping in Children Treated With Tramadol
 

Status: Recruiting

Condition Summary: Drug Intolerance; Cytochrome P450 CYP2D6 Enzyme Deficiency; Drug Effect

 

Last Updated: 2 May 2017

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