(Q71482697)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

M A Rafi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

P Luzi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

J Zlotogora

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

D A Wenger

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

publication date

1 March 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

volume

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

page(s)

304-308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02185759

18 October 2019

exact match

0 references

cites work

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

1 reference

12 December 2020

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

1 reference

12 December 2020

Galactocerebrosidase from human urine: purification and partial characterization

1 reference

12 December 2020

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

1 reference

12 December 2020

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

1 reference

12 December 2020

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Krabbe disease: increased incidence in a highly inbred community

1 reference

12 December 2020

Krabbe disease in Israel.

1 reference

12 December 2020

Structure and organization of the human galactocerebrosidase (GALC) gene

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

12 December 2020

Krabbe disease locus mapped to chromosome 14 by genetic linkage

1 reference

12 December 2020

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02185759

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786069%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference