(Q71995474)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7649546

16 July 2024

author name string

J. Giesel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7649546

16 July 2024

G. Holzem

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7649546

16 July 2024

K. Oette

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7649546

16 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7649546

16 July 2024

publication date

1 September 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

22 October 2019

http://link.springer.com/content/pdf/10.1007/BF00210411.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/BF00210411

http://link.springer.com/article/10.1007/BF00210411/fulltext.html

16 July 2024

1 reference

https://api.crossref.org/works/10.1007/BF00210411

http://link.springer.com/content/pdf/10.1007/BF00210411

16 July 2024

1 reference

https://api.crossref.org/works/10.1007/BF00210411

16 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

301-304

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00210411

22 October 2019

exact match

0 references

cites work

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200-->Gly.

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews

1 reference

12 December 2020

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

12 December 2020

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

12 December 2020

Molecular scanning methods of mutation detection.

1 reference

12 December 2020

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210411

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649546%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference