(Q70484981)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference

2

Desnick RJ

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

3

Schuchman EH

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

Levran O

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

317-319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

11 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Molecular basis of acid sphingomyelinase dificiency in a patient with Niemann-Pick disease type A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Affinity generation of single-stranded DNA for dideoxy sequencing following the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020414

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401540%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference