(Q28244111)

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Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

scientific article (publication date: November 1992)

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Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease (English)

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1 reference

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Europe PubMed Central

PubMed publication ID

1487253

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487253

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1 October 2022

author name string

P. A. Bolhuis

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1

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Europe PubMed Central

PubMed publication ID

1487253

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487253

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1 October 2022

H. Bikker

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2

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Europe PubMed Central

PubMed publication ID

1487253

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487253

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1 October 2022

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English

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publication date

November 1992

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published in

Human Genetics

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volume

90

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issue

3

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page(s)

328-9

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cites work

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

retrieved

12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

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12 December 2020

based on heuristic

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Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1487253

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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DOI

10.1007/BF00220096

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1019330894

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PubMed publication ID

1487253

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(Q28244111)

Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

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