Gene Locus : human-PGAP1
Mode of mutation : Natural mutant
Disease : Mental retardation, autosomal recessive 42 MRT42
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
IVS9-2A>Gc.1090-2A>G siblings homozygote splice site mutation
| Title : Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline - Granzow_2015_Mol.Cell.Probes_29_323 |
| Author(s) : Granzow M , Paramasivam N , Hinderhofer K , Fischer C , Chotewutmontri S , Kaufmann L , Evers C , Kotzaeridou U , Rohrschneider K , Schlesner M , Sturm M , Pinkert S , Eils R , Bartram CR , Bauer P , Moog U |
| Ref : Mol Cell Probes , 29 :323 , 2015 |
| Abstract : |
| PubMedSearch : Granzow_2015_Mol.Cell.Probes_29_323 |
| PubMedID: 26050939 |