Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
about
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selectionOnly three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patientsCommon genetic variants account for differences in gene expression among ethnic groupsThe presence of two different infantile Tay-Sachs disease mutations in a Cajun populationA pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningSix novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsA second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationTay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidaseChoosing blindly but wisely: differentially private solicitation of DNA datasets for disease marker discoveryCanavan disease: mutations among Jewish and non-Jewish patients.Prenatal diagnosis of enzyme defects--an update.Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.Human immunodeficiency virus type 1 evolution in vivo tracked by DNA heteroduplex mobility assays.Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.Primer system for single cell detection of double mutation for Tay-Sachs disease.Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
P2860
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P2860
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
description
1990 nî lūn-bûn
@nan
1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@ast
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@en
type
label
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@ast
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@en
prefLabel
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@ast
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@en
P2093
P2860
P1476
Frequency of three Hex A mutan ...... a Tay-Sachs screening program
@en
P2093
P2860
P304
P407
P577
1990-10-01T00:00:00Z