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Akademický článek

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

Autor: A Mesut Erzurumluoglu, Muslim M Alsaadi, Santiago Rodriguez, Tahani S Alotaibi, Philip A I Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R Gaunt, Khalid K Alharbi, Fahad M Alsaif, Basma M Alsaadi, Ian N M Day

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0121351 (2015)

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identi

Externí odkaz: https://doaj.org/article/4e81a7a0ca9541c1a339d1172f47cfc5

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Elektronická kniha

Greek Tyranny

Autor: Sian Lewis

The tyrants of Greece are some of the most colourful figures in antiquity, notorious for their luxury, excess and violence, and provoking heated debates among political thinkers. Greek Tyranny examines the phenomenon of autocratic rule outside the la

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