(Q28207958)

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

scientific article (publication date: December 1992)

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

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M. Fernandes

1

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Europe PubMed Central

PubMed publication ID

1302612

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302612

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11 September 2022

F. Kaplan

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2

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Europe PubMed Central

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1302612

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302612

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11 September 2022

M. Natowicz

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3

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1302612

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302612

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11 September 2022

E. Prence

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4

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1302612

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302612

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11 September 2022

E. Kolodny

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5

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1302612

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11 September 2022

M. Kaback

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6

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1302612

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11 September 2022

P. Hechtman

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7

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1302612

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302612

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11 September 2022

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English

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publication date

December 1992

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published in

Human Molecular Genetics

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volume

1

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issue

9

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page(s)

759-61

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Identifiers

DOI

10.1093/HMG/1.9.759

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PubMed publication ID

1302612

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(Q28207958)

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

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