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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Hildebrandt, Friedhelm ; Hinkes, Bernward ; Wiggins, Roger C ; Gbadegesin, Rasheed ; Vlangos, Christopher N ; Seelow, Dominik ; Nürnberg, Gudrun ; Garg, Puneet ; Verma, Rakesh ; Chaib, Hassan ; Hoskins, Bethan E ; Ashraf, Shazia ; Becker, Christian ; Hennies, Hans Christian ; Goyal, Meera ; Wharram, Bryan L ; Schachter, Asher D ; Mudumana, Sudha ; Drummond, Iain ; Kerjaschki, Dontscho ; Waldherr, Rüdiger ; Dietrich, Alexander ; Ozaltin, Fatih ; Bakkaloglu, Aysin ; Cleper, Roxana ; Basel-Vanagaite, Lina ; Pohl, Martin ; Griebel, Martin ; Tsygin, Alexey N ; Soylu, Alper ; Müller, Dominik ; Sorli, Caroline S ; Bunney, Tom D ; Katan, Matilda ; Liu, Jinhong ; Attanasio, Massimo ; O'Toole, John F ; Hasselbacher, Katrin ; Mucha, Bettina ; Otto, Edgar A ; Airik, Rannar ; Kispert, Andreas ; Kelley, Grant G ; Smrcka, Alan V ; Gudermann, Thomas ; Holzman, Lawrence B ; Nürnberg, Peter

Nature genetics, 2006-12, Vol.38 (12), p.1397-1405 [Periódico revisado por pares]

London: Nature Publishing Group

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2
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Evgrafov, Oleg V ; Mersiyanova, Irena ; Irobi, Joy ; Van Den Bosch, Ludo ; Dierick, Ines ; Leung, Conrad L ; Schagina, Olga ; Verpoorten, Nathalie ; Van Impe, Katrien ; Fedotov, Valeriy ; Dadali, Elena ; Auer-Grumbach, Michaela ; Windpassinger, Christian ; Wagner, Klaus ; Mitrovic, Zoran ; Hilton-Jones, David ; Talbot, Kevin ; Martin, Jean-Jacques ; Vasserman, Natalia ; Tverskaya, Svetlana ; Polyakov, Alexander ; Liem, Ronald K H ; Gettemans, Jan ; Robberecht, Wim ; De Jonghe, Peter ; Timmerman, Vincent

Nature genetics, 2004-06, Vol.36 (6), p.602-606 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
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Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II

Ivanov, Pavel L ; Wadhams, Mark J ; Roby, Rhonda K ; Holland, Mitchell M ; Weedn, Victor W ; Parsons, Thomas J

Nature genetics, 1996-04, Vol.12 (4), p.417-420 [Periódico revisado por pares]

London: Nature Publishing Group

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