Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
about
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningA second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationMolecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.Two abnormalities of hexosaminidase A in clinically normal individuals.Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.Normal adult with absent HEX A: immunoreactive HEX A is presentHuman neutral alpha-glucosidase C: genetic polymorphism including a "null" allele.Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies"Pseudodeficiencies" of lysosomal hydrolases.Interaction of activating protein and surfactants with human liver hexosaminidase A and GM2 ganglioside.
P2860
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P2860
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
description
1978 nî lūn-bûn
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1978 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@ast
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@en
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@nl
type
label
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@ast
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@en
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@nl
prefLabel
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@ast
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@en
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@nl
P2093
P2860
P1476
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants
@en
P2093
J S O'Brien
W E Bucknall
P2860
P407
P577
1978-11-01T00:00:00Z