(Q28115486)

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

13 November 2022

1

E. H. Schuchman

1 reference

3 January 2017

4

R. J. Desnick

1 reference

3 January 2017

3

L. V. Pereira

1 reference

Europe PubMed Central

PubMed ID

1740330

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1740330

13 November 2022

author name string

O. Levran

full work available at URL

2

1 reference

3 January 2017

language of work or name

English

0 references

publication date

1 February 1992

1 reference

3 January 2017

https://api.elsevier.com/content/article/PII:088875439290366Z?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

https://api.elsevier.com/content/article/PII:088875439290366Z?httpAccept=text/plain

13 November 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

13 November 2022

1 reference

3 January 2017

12

1 reference

3 January 2017

2

1 reference

3 January 2017

197–205

1 reference

3 January 2017

Sources and evolution of human Alu repeated sequences

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

The human glucocerebrosidase gene and pseudogene: structure and evolution

13 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Synthesis and use of synthetic oligonucleotides

13 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

A fundamental division in the Alu family of repeated sequences

13 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Intracellular transport and metabolism of sphingomyelin

13 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Nucleotide sequence of the human alpha-galactosidase A gene

13 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

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

13 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

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

13 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Cloning and characterization of the human beta-glucuronidase gene

13 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

A catalogue of splice junction sequences

13 November 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Acid sphingomyelinase from human urine: purification and characterization.

13 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts

13 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Structural analysis of the human glucocerebrosidase genes.

13 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)

13 November 2022

25

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Analysis of the 5' flanking region of the human beta-glucuronidase gene

13 November 2022

26

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

13 November 2022

28

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

13 November 2022

30

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90366-Z

13 November 2022

Identifiers