(Q72033672)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Jacobson DR

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Buxbaum JN

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 January 1994

1 reference

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23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

3

1 reference

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23 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

254-260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

Thyroxine-binding prealbumin gene polymorphism: a population study

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Inherited amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

RNA secondary structure repression of a muscle-specific exon in HeLa cell nuclear extracts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Structure of the chromosomal gene for human serum prealbumin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

RNA editing--a novel genetic phenomenon?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030313

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019560%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference