about
P1343
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.Structural constraints on autoprocessing of the human nucleoporin Nup98Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of AspartylglucosaminuriaAntenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland.Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulumWorldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuriaBatten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypesTriple primer polymerase chain reaction. A new way to quantify truncated mRNA expressionGenetic homogeneity of autoimmune polyglandular disease type I.Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.Cell surface and secreted protein profiles of human thyroid cancer cell lines reveal distinct glycoprotein patterns.Immediate interaction between the nascent subunits and two conserved amino acids Trp34 and Thr206 are needed for the catalytic activity of aspartylglucosaminidase.Post-translational processing and Thr-206 are required for glycosylasparaginase activity.Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.Applications of PCR in the diseases of genetic isolates.
P2860
Q24538735-F68FE356-4EDA-434C-B7EB-353E3CB47266Q27649893-8BEECAC0-0CF3-46A2-839E-7A7184EA95FEQ28820747-A7243EAD-1C8F-49D2-937B-370491858DCBQ33947477-A5477EDA-315F-457E-99AC-5E6705346B91Q34041841-7C03B55C-0F42-44A7-A403-AFF49F0165D0Q34137740-6E3D759B-CE2A-4FD4-893A-DA59F8F54FCCQ34733165-7546CBF6-D192-46E7-B2DF-27B7B0CCEEDCQ34742914-2B6DD207-5D5A-4C98-A625-F5E2CC7AB3C9Q35432381-7079EAC6-DB00-4FE7-AA7A-281F0FF45C06Q35643282-379604BD-F0D4-4D43-BFEF-16040F51F8FDQ35773592-1DF48007-EB38-4A4E-8143-EBD3DE16BA66Q35882147-611E04E6-D86E-4E4C-A4A4-026EEB432F69Q37084846-D4EEC9B9-B776-490A-A267-CCCEE76C9F22Q37326598-80E26E4C-932F-42CF-A14E-99D3E97302A7Q41361372-57789938-0B4C-42EC-B866-726BE4FB3D06Q41548767-FB490B1F-D4C3-4E52-9FD2-5AEEB1D6D0FCQ41565600-778EAF98-BDBF-4A67-881A-AB65E1B4E458Q41815846-8E7C08D4-BFEE-4331-8A4D-E471A1D4D9E1
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 1991
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Spectrum of mutations in aspartylglucosaminuria.
@en
Spectrum of mutations in aspartylglucosaminuria.
@nl
type
label
Spectrum of mutations in aspartylglucosaminuria.
@en
Spectrum of mutations in aspartylglucosaminuria.
@nl
prefLabel
Spectrum of mutations in aspartylglucosaminuria.
@en
Spectrum of mutations in aspartylglucosaminuria.
@nl
P2093
P2860
P356
P1476
Spectrum of mutations in aspartylglucosaminuria.
@en
P2093
Manninen T
Peltonen L
Tollersrud O
P2860
P304
11222-11226
P356
10.1073/PNAS.88.24.11222
P407
P577
1991-12-01T00:00:00Z