Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Myasthenic syndrome, congenital, 22\; CMS22
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 : Maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutationfemale infant, we identified a novel homozygous frameshift mutation in PREPL (c.1282_1285delTTTG, p.Phe428Argfs*18)
| Title : First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant - Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| Author(s) : Zhang P , Wu B , Lu Y , Ni Q , Liu R , Zhou W , Wang H |
| Ref : Mol Genet Genomic Med , 8 :e1144 , 2020 |
| Abstract : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| ESTHER : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| PubMedSearch : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| PubMedID: 31985178 |
| Gene_locus related to this paper: human-PREPL |