(Q54356994)

28 May 2018

title

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. (English)

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28 May 2018

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6

Robert J Desnick

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28 May 2018

author name string

Alireza Haghighi

1

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28 May 2018

Jamileh Rezazadeh

2

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28 May 2018

Azam Ahmadi Shadmehri

3

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28 May 2018

Amirreza Haghighi

4

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28 May 2018

Ruth Kornreich

5

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28 May 2018

publication date

28 July 2011

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28 May 2018

Journal of Human Genetics

published in

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28 May 2018

volume

56

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issue

9

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28 May 2018

page(s)

682-684

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28 May 2018

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.78

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.78

Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.78

The CpG dinucleotide and human genetic disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.78

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

Biochemical consequences of mutations causing the GM2 gangliosidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.78

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2011.78

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28 May 2018

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28 May 2018