Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
about
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
P2860
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@en
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@nl
type
label
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@en
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@nl
prefLabel
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@en
Compound heterozygous mutation ...... tile epileptic encephalopathy.
@nl
P2093
P2860
P356
P1476
Compound heterozygous mutation ...... ntile epileptic encephalopathy
@en
P2093
Anik St-Denis
Care4Rare Canada Consortium
Claire Goldsmith
David A Dyment
Dennis E Bulman
Devon L Johnstone
Françoise le Deist
Jacek Majewski
Justin D Wagner
Kristin D Kernohan
P2860
P304
P356
10.1093/HMG/DDX077
P577
2017-05-01T00:00:00Z