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.P92del Pro92del c.274_276del A Patient with muscular hypotonia, feeding difficulties and developmental delay, compound heterozygous with c.921_925del (p.Lys308AsnfsX25)
| Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB |
| Ref : Eur J Hum Genet , 23 :1689 , 2015 |
| Abstract : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| ESTHER : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedID: 25804403 |