A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

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A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

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http://www.wikidata.org/entity/Q58190414

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im Februar 2014 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в лютому 2014

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A compound T60A and V122I hete ...... set severe cardiac amyloidosis

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A compound T60A and V122I hete ...... set severe cardiac amyloidosis

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A compound T60A and V122I hete ...... set severe cardiac amyloidosis

@en

A compound T60A and V122I hete ...... set severe cardiac amyloidosis

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A compound T60A and V122I hete ...... set severe cardiac amyloidosis

@en

A compound T60A and V122I hete ...... set severe cardiac amyloidosis

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P1476

A compound T60A and V122I hete ...... set severe cardiac amyloidosis

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Daisy Alapat

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Frits van Rhee

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Honey Vodur Reddi

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Ricky D. Edmondson

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W. Edward Highsmith

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Yi-Chang Liu

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P2860

A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

Transthyretin (TTR) cardiac amyloidosis.

The molecular biology and clinical features of amyloid neuropathy.

Transthyretin-related amyloidoses and the heart: a clinical overview.

Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations.

A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.

Homozygous transthyretin mutation in an African American Male.

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134-135

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scholarly article

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10.3109/13506129.2014.883373

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Bart Barlogie

Sarah Waheed

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2014-02-11T00:00:00Z

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24517438

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