Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

about

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.Carrier Screening: Past, Present, and Future.

P2860

Q34402430-A24B68A7-6298-4C26-8B97-5D445D37B8DB Q37649360-5BF2550D-80E0-431D-B31A-A6834CA90913 Q46330110-041FD07B-5C8F-462D-8CB4-1169ECEF0DFE

P2860

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

Item

http://www.wikidata.org/entity/Q36590890

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@ast

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@en

type

Item

label

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@ast

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@en

prefLabel

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@ast

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@en

P1476

Platelet hexosaminidase a enzy ...... targeted DNA mutation analysis

@en

P2093

Adele Schneider

http://www.w3.org/2001/XMLSchema#string

Anja Kammesheidt

http://www.w3.org/2001/XMLSchema#string

Brian L Mark

http://www.w3.org/2001/XMLSchema#string

Jie Zhan

http://www.w3.org/2001/XMLSchema#string

Nicole Schreiber-Agus

http://www.w3.org/2001/XMLSchema#string

Sachiko Nakagawa

http://www.w3.org/2001/XMLSchema#string

Steven Keiles

http://www.w3.org/2001/XMLSchema#string

Susan Gross

http://www.w3.org/2001/XMLSchema#string

Tina Hambuch

http://www.w3.org/2001/XMLSchema#string

Wei Sun

http://www.w3.org/2001/XMLSchema#string

P2860

A classification of glycosyl hydrolases based on amino acid sequence similarities

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

Two-sided confidence intervals for the single proportion: comparison of seven methods

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

P304

1-6

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/8904_2011_120

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Jose Carlos Ferreira

P577

2012-01-31T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

23430931

http://www.w3.org/2001/XMLSchema#string

P932

3565630

http://www.w3.org/2001/XMLSchema#string

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

about

P2860

P2860

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932