(Q36717157)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868124%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Transthyretin Ser 6 gene frequency in individuals without amyloidosis (English)

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27 October 2019

3

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27 October 2019

author name string

D R Jacobson

1

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27 October 2019

I L Alves

2

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27 October 2019

S N Thibodeau

4

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27 October 2019

J N Buxbaum

5

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27 October 2019

publication date

1 March 1995

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27 October 2019

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27 October 2019

volume

95

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27 October 2019

issue

3

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27 October 2019

page(s)

308-312

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https://scigraph.springernature.com/pub.10.1007/bf00225199

27 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies

1 reference

12 December 2020

Characterization of a basic transthyretin variant - TTR Arg 102 - in the German population

1 reference

12 December 2020

Genetic Aspects of Amyloidosis

1 reference

12 December 2020

Production and functional analysis of normal and variant recombinant human transthyretin proteins.

1 reference

12 December 2020

Molecular analyses of an acidic transthyretin Asn 90 variant

1 reference

12 December 2020

Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants

1 reference

12 December 2020

Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30

1 reference

12 December 2020

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

1 reference

12 December 2020

The amino acid sequence of human plasma prealbumin.

1 reference

12 December 2020

Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family

1 reference

12 December 2020

Thyroxine binding by human transthyretin variants: mutations at position 119, but not position 54, increase thyroxine binding affinity.

1 reference

12 December 2020

Identification and characterization of a human transthyretin variant

1 reference

12 December 2020

An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing

1 reference

12 December 2020

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

1 reference

12 December 2020

Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis

1 reference

12 December 2020

Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population

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

A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding

1 reference

12 December 2020

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant

1 reference

12 December 2020

Haplotype analysis of familial amyloidotic polyneuropathy

1 reference

12 December 2020

Thyroxine-binding prealbumin gene polymorphism: a population study

1 reference

12 December 2020

A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia

1 reference

12 December 2020

Thyroxine binding in a TTR Met 119 kindred

1 reference

12 December 2020

Familial amyloidosis--hereditary systemic disease of the connective tissue and other organs

1 reference

12 December 2020

A prealbumin variant with an increased affinity for T4 and reverse-T3

1 reference

12 December 2020

Caucasian genes in American blacks: new data

1 reference

12 December 2020

A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology

1 reference

12 December 2020

From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease

1 reference

12 December 2020

Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00225199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868124%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference