(Q77461126)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

A novel splicing mutation causes an undescribed type of analbuminemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

Monica Campagnoli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Antonio Rossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Lars Palmqvist

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Anders Flisberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Aimon Niklasson

5

1 reference

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5 December 2019

Lorenzo Minchotti

6

1 reference

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5 December 2019

Monica Galliano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

English

0 references

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

1586

1 reference

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5 December 2019

issue

1

1 reference

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5 December 2019

page(s)

43-49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

Genetic and drug-induced variation in serum albumin

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Morphologic, biochemical and physiologic alterations in a case of idiopathic hypoalbuminemia (analbuminemia)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Characterization of hyperlipidemia in two patients with analbuminemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Analbuminemia: three cases resulting from different point mutations in the albumin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Albumin-deficient rat mutant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Analbuminemia in an American Indian girl

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Splicing mutation in human hereditary analbuminemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

A nucleotide insertion and frameshift cause analbuminemia in an Italian family

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Exon recognition in vertebrate splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2801%2900084-9

7 January 2021

10.1016/S0925-4439(01)00084-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11781148%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference