Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

Item
http://www.wikidata.org/entity/Q28138516
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsMutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) miceGenome-wide survey of allele-specific splicing in humans.Genomic features defining exonic variants that modulate splicing.The human obesity gene map: the 2000 update.The human obesity gene map: the 2001 update.Congenital disorders of glycosylation: a review.The human obesity gene map: the 2002 update.Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeCDG Therapies: From Bench to Bedside.
P2860

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

Item
http://www.wikidata.org/entity/Q28138516
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@ast
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@en
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@nl
type
label
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@ast
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@en
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@nl
prefLabel
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@ast
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@en
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Characterization of the 415G>A ...... r resulting in exon 5 skipping
@en
P2093
P304
P31
P356
10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S
P407
P433
P478
P577
P698