(Q28207645)

English

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

scientific article (publication date: 1992)

In more languages

edit

Statements

instance of

scholarly article

0 references

title

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

0 references

1 reference

1 reference

2

R J Desnick

0 references

Edward H Schuchman

series ordinal

4

object named as

E H Schuchman

0 references

author name string

T Takahashi

series ordinal

1

0 references

G Takada

series ordinal

3

0 references

language of work or name

English

0 references

publication date

1992

0 references

published in

Human Mutation

0 references

volume

1

0 references

issue

1

0 references

page(s)

70-1

0 references

cites work

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010111

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010111

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010111

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.1380010111

0 references

PubMed publication ID

1301192

0 references

(Q28207645)

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

Statements

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)