(Q47994609)

7 February 2018

title

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease (English)

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7 February 2018

author name string

Furihata K

1

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7 February 2018

Drousiotou A

2

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7 February 2018

Hara Y

3

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7 February 2018

Christopoulos G

4

1 reference

7 February 2018

Stylianidou G

5

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7 February 2018

Anastasiadou V

6

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7 February 2018

Ueno I

7

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7 February 2018

Ioannou P

8

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7 February 2018

publication date

1 January 1999

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7 February 2018

published in

Human Mutation

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7 February 2018

volume

13

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7 February 2018

issue

1

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7 February 2018

page(s)

38-43

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7 February 2018

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Efficient selection for high-expression transfectants with a novel eukaryotic vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Identification of domains in human beta-hexosaminidase that determine substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

Evidence for the involvement of Glu-355 in the catalytic action of human beta-hexosaminidase B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A1%3C38%3A%3AAID-HUMU4%3E3.0.CO%3B2-S

10.1002/(SICI)1098-1004(1999)13:1<38::AID-HUMU4>3.0.CO;2-S

21 January 2018

Identifiers

DOI

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7 February 2018

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7 February 2018