(Q24532489)

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Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

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title

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B (English)

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main subject

congenital disorder

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distal arthrogryposis

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based on heuristic

inferred from title

Sheldon-Hall syndrome

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5

Lynn B Jorde

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author name string

Sandy S Sung

series ordinal

1

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Anna-Marie E Brassington

series ordinal

2

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Patrycja A Krakowiak

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3

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John C Carey

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4

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Michael Bamshad

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6

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language of work or name

English

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publication date

July 2003

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published in

American Journal of Human Genetics

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volume

73

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issue

1

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page(s)

212-4

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cites work

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180583

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24 March 2017

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

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PubMed Central

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24 March 2017

Striated muscle cytoarchitecture: an intricate web of form and function

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180583

retrieved

24 March 2017

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

1 reference

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PubMed Central

reference URL

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retrieved

24 March 2017

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180583

retrieved

24 March 2017

A revised and extended classification of the distal arthrogryposes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180583

retrieved

24 March 2017

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180583

retrieved

24 March 2017

Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12865991

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/376418

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2987164

OpenCitations bibliographic resource ID

2987164

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2987164

PubMed publication ID

12865991

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2987164

ResearchGate publication ID

10657860

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(Q24532489)

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

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