(Q28207721)

3

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E M Prence

4

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M R Natowicz

5

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J S Lim-Steele

6

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M M Kaback

7

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E H Mules

8

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G H Thomas

9

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J T Clarke

10

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Akerman BR

1

1 reference

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10 September 2022

Zielenski J

2

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10 September 2022

Triggs-Raine BL

3

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10 September 2022

Prence EM

4

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10 September 2022

Natowicz MR

5

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10 September 2022

Lim-Steele JS

6

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10 September 2022

Kaback MM

7

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10 September 2022

Mules EH

8

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10 September 2022

Thomas GH

9

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10 September 2022

Clarke JT

10

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

10 September 2022

language of work or name

English

0 references

publication date

1992

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published in

Human Mutation

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volume

1

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issue

4

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page(s)

303-9

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Biochemistry and Genetics of Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Improved direct molecular diagnosis and rapid fetal sexing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010407

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010407

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