心脏移植后诊断出的一名麦克劳德综合征患者中的新型XK突变。 - Suppr

Novel XK mutation in a McLeod patient diagnosed after heart transplant.

作者信息

Laurencin Chloé, Sebbag Laurent, Jousserand Guillemette, Demontes Marie, Campean Lia, Thivolet-Bejui Francoise, Lebre Anne Sophie, Thobois Stephane

机构信息

Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France; Université de Lyon, CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69500 Bron, France; Université de Lyon, Université Claude Bernard Lyon 1, Faculté de médecine Lyon Sud Charles Mérieux, 69000 Lyon, France.

Hospices Civils de Lyon, Hôpital Cardiologique Louis Pradel, Service de chirurgie cardiovasculaire, 69000 Lyon, France.

出版信息

Clin Neurol Neurosurg. 2018 May;168:64-66. doi: 10.1016/j.clineuro.2018.02.039. Epub 2018 Mar 1.

DOI:10.1016/j.clineuro.2018.02.039

PMID:29524658

Abstract

摘要

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Novel XK mutation in a McLeod patient diagnosed after heart transplant.

Clin Neurol Neurosurg. 2018 May;168:64-66. doi: 10.1016/j.clineuro.2018.02.039. Epub 2018 Mar 1.

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.

Transfusion. 2003 Jul;43(7):928-38. doi: 10.1046/j.1537-2995.2003.t01-1-00434.x.

Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.

Transfusion. 2009 Mar;49(3):479-84. doi: 10.1111/j.1537-2995.2008.02003.x. Epub 2008 Nov 25.

A novel XK gene mutation in a Taiwanese family with McLeod syndrome.

J Neurol Sci. 2014 May 15;340(1-2):221-4. doi: 10.1016/j.jns.2014.02.027. Epub 2014 Feb 27.

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Transfusion. 2007 Feb;47(2):299-305. doi: 10.1111/j.1537-2995.2007.01106.x.

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Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

J Neurol Sci. 2014 Apr 15;339(1-2):220-2. doi: 10.1016/j.jns.2014.01.034. Epub 2014 Feb 1.

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J Clin Psychiatry. 2004 May;65(5):722-3. doi: 10.4088/jcp.v65n0520c.

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Rev Med Chil. 2006 Nov;134(11):1436-42. doi: 10.4067/s0034-98872006001100011. Epub 2007 Jan 2.

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引用本文的文献

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Novel XK mutation in a McLeod patient diagnosed after heart transplant.

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