(Q70821105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

Gomez-Lira M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Perusi C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Brutti N

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Farnetani MA

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Margollicci MA

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Rizzuto N

6

1 reference

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14 October 2019

Pignatti PF

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Salviati A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

publication date

1 January 1995

1 reference

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14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

3

1 reference

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14 October 2019

page(s)

260-262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

14 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060313

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535449%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference