(Q41436093)

30 September 2017

Identification of an altered splice site in Ashkenazi Tay-Sachs disease (English)

1 reference

30 September 2017

Arpaia E

1

1 reference

30 September 2017

Dumbrille-Ross A

2

1 reference

30 September 2017

Maler T

3

1 reference

30 September 2017

Neote K

4

1 reference

30 September 2017

Tropak M

5

1 reference

30 September 2017

Troxel C

6

1 reference

30 September 2017

Stirling JL

7

1 reference

30 September 2017

Pitts JS

8

1 reference

30 September 2017

Bapat B

9

1 reference

30 September 2017

Lamhonwah AM

10

1 reference

30 September 2017

language of work or name

English

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publication date

1 May 1988

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30 September 2017

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30 September 2017

333

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30 September 2017

85-86

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30 September 2017

6168

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https://scigraph.springernature.com/pub.10.1038/333085a0

30 September 2017

0 references

cites work

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

7 January 2021

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

7 January 2021

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

7 January 2021

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1 reference

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

7 January 2021

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

7 January 2021

Identifiers

DOI

10.1038/333085A0

1 reference

Dimensions Publication ID

30 September 2017

0 references

1 reference