Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin (Q58185601)

Vilma-Lotta Lehtokari

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Katarina Pelin

Katarina Pelin

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Nigel G Laing

Nigel G Laing

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Haluk Topaloglu

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Haluk Topaloglu

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author name string

Thomas Voit

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Sabine Rudnik-Schöneborn

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Mechthild Stoetter

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Beril Talim

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Carina Wallgren-Pettersson

European Journal of Human Genetics

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publication date

2 April 2008

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published in

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volume

16

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issue

9

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page(s)

1055-1061

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exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.60

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cites work

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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

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