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 : p.Leu197del c.589_591delCTT homozygous in two sibblings
| Title : Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy - Murakami_2014_PLoS.Genet_10_e1004320 |
| Author(s) : Murakami Y , Tawamie H , Maeda Y , Buttner C , Buchert R , Radwan F , Schaffer S , Sticht H , Aigner M , Reis A , Kinoshita T , Jamra RA |
| Ref : PLoS Genet , 10 :e1004320 , 2014 |
| Abstract : Murakami_2014_PLoS.Genet_10_e1004320 |
| ESTHER : Murakami_2014_PLoS.Genet_10_e1004320 |
| PubMedSearch : Murakami_2014_PLoS.Genet_10_e1004320 |
| PubMedID: 24784135 |
| Gene_locus related to this paper: human-PGAP1 |