(Q41873561)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Nicholas D.E. Greene

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Sara E. Mole

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

P B Munroe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

K Y Leung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

R M Gardiner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

H M Mitchison

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

J B Stephenson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

language of work or name

English

0 references

publication date

1 September 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

9

1 reference

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3 December 2019

page(s)

790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

3 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051443

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051443

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051443

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051443

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9733046

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.9.790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9733046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

PubMed publication ID

9733046

1 reference