Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes. One hundred and seventy patients with ataxia of unknown etiology referred from clinics throughout the United States and Canada were studied using a ta...

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Veröffentlicht in:Genetics in medicine 2019-01, Vol.21 (1), p.195-206
Hauptverfasser: Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Gomez, Christopher M., Waggoner, Darrel J., Das, Soma
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Sprache:eng
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