A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

Item
http://www.wikidata.org/entity/Q24670366
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysisIdentification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type IIdentification of novel mutations in HEXA gene in children affected with Tay Sachs disease from IndiaAtypical presentation of late-onset Tay-Sachs diseaseNovel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene"Pseudodeficiencies" of lysosomal hydrolases.Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
P2860

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

Item
http://www.wikidata.org/entity/Q24670366
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A second mutation associated w ...... ation and frequency estimation
@ast
A second mutation associated w ...... ation and frequency estimation
@en
A second mutation associated w ...... ation and frequency estimation
@nl
type
label
A second mutation associated w ...... ation and frequency estimation
@ast
A second mutation associated w ...... ation and frequency estimation
@en
A second mutation associated w ...... ation and frequency estimation
@nl
prefLabel
A second mutation associated w ...... ation and frequency estimation
@ast
A second mutation associated w ...... ation and frequency estimation
@en
A second mutation associated w ...... ation and frequency estimation
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
A second mutation associated w ...... ation and frequency estimation
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932