Novel Lyst Mutations in Two Siblings with Childhood Chediak Higashi Syndrome and Fatal Neurological Outcome Prevented by Cord Blood Transplantation

Francisco J. Barriga; Mariana I. Aracena; Marta Hernandez; Nicolas Rojas; Angelica Wietstruck

首页> 外文期刊>Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation >Novel Lyst Mutations in Two Siblings with Childhood Chediak Higashi Syndrome and Fatal Neurological Outcome Prevented by Cord Blood Transplantation

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Novel Lyst Mutations in Two Siblings with Childhood Chediak Higashi Syndrome and Fatal Neurological Outcome Prevented by Cord Blood Transplantation

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来源
《Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation》 |2018年第3期|共1页
作者
Francisco J. Barriga; Mariana I. Aracena; Marta Hernandez; Nicolas Rojas; Angelica Wietstruck;
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作者单位

Pediatrics Pediatric Hematology Oncology Pontificia Universidad Catolica de Chile;

Genetics Pontificia Universidad Catolica de Chile;

Pediatric Neurology Pontificia Universidad Catolica de Chile;

Pediatric Hematology Oncology Pontificia Universidad Catolica de Chile;

Pediatric Hematology Oncology Pontificia Universidad Catolica de Chile;

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原文格式 PDF
正文语种 eng
中图分类治疗学;
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1. Novel Lyst Mutations in Two Siblings with Childhood Chediak Higashi Syndrome and Fatal Neurological Outcome Prevented by Cord Blood Transplantation [J] . Francisco J. Barriga, Mariana I. Aracena, Marta Hernandez, Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation . 2018,第3期

机译：None
2. Genetic analysis in Egyptian patients with Chediak–Higashi syndrome reveals new LYST LYST LYST mutations [J] . Gomaa N. S., Lee J. Y. W., El Sharkawy A., Clinical and experimental dermatology . 2019,第7期

机译：Chediak-higashi综合征埃及患者的遗传分析揭示了新的Lyst Lyst Lyst突变
3. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. [J] . Kaya Z, Ehl S, Albayrak M, Pediatric blood & cancer . 2011,第7期

机译：Chediak Higashi综合征的具有不同表型特征的两个兄弟姐妹中的LYST基因的新型单点突变。
4. Gross motor and gait abilities of children with Hurler syndrome, pre and post umbilical cord blood transplant. [D] . Dusing, Stacey Chapman. 2006

机译：Hurler综合征，脐带血移植前后的儿童的总体运动和步态能力。
5. Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome [O] . Yinsen Song, Zhengping Dong, Shuying Luo, 2020

机译：LYST基因复合杂合子的鉴定：Chediak-Higashi综合征的一例报道
6. Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome [O] . Yinsen Song, Zhengping Dong, Shuying Luo, 2020

机译：鉴定Lyst基因的化合物杂合子：Chediak-Higashi综合征的病例报告

Novel Lyst Mutations in Two Siblings with Childhood Chediak Higashi Syndrome and Fatal Neurological Outcome Prevented by Cord Blood Transplantation

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