A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

Marsh Ashley P. L.; Yap Patrick; Tan Tiong; Pope Kate; White Susan M.; Chong Belinda; Mcgillivray George; Boys Amber; Stephenson Sarah E. M.; Leventer Richard J.; Stark Zornitza; Lockhart Paul J.

首页> 外文期刊>American journal of medical genetics, Part A >A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

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A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

机译：AMP脱氨酶结构域外的新型AMPD2突变导致Pontocerebellar发育不全类型9

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来源
《American journal of medical genetics, Part A》 |2017年第3期|共4页
作者
Marsh Ashley P. L.; Yap Patrick; Tan Tiong; Pope Kate; White Susan M.; Chong Belinda; Mcgillivray George; Boys Amber; Stephenson Sarah E. M.; Leventer Richard J.; Stark Zornitza; Lockhart Paul J.;
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作者单位

Royal Childrens Hosp Bruce Lefroy Ctr Genet Hlth Res Murdoch Childrens Res Inst Parkville Vic;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Royal Childrens Hosp Bruce Lefroy Ctr Genet Hlth Res Murdoch Childrens Res Inst Parkville Vic;

Univ Melbourne Dept Paediat Parkville Vic Australia;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Royal Childrens Hosp Bruce Lefroy Ctr Genet Hlth Res Murdoch Childrens Res Inst Parkville Vic;

Univ Melbourne Dept Paediat Parkville Vic Australia;

Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic Australia;

Royal Childrens Hosp Bruce Lefroy Ctr Genet Hlth Res Murdoch Childrens Res Inst Parkville Vic;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9 [J] . Marsh Ashley P. L., Yap Patrick, Tan Tiong, American journal of medical genetics, Part A . 2017,第3期

机译：AMP脱氨酶结构域外的新型AMPD2突变导致Pontocerebellar发育不全类型9
2. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2 [J] . Abreu Nicolas J., Koboldt Daniel C., Gastier-Foster Julie M., American journal of medical genetics, Part A . 2020,第3期

机译：AMPD2和COL11A1中的纯合子变体导致Pontocerebellar发育性9型和粘性综合征2型的复杂表型
3. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss [J] . Ashley P.L. Marsh, Vesna Lukic, Kate Pope, Neurology: Genetics . 2015,第2期

机译：由于AMPD2丢失而导致完全call体发育不全，桥小脑发育不全和轴突神经病
4. Detection of de novo IGHV mutations by ultra-deep sequencing from in vitro activated B-cell chronic lymphocytic leukemia cells: Evidence for activation-induced deaminase function [C] . Chu C.C., Patten P.E.M., MacCarthy T, International Congress of Immunology. . 2014

机译：通过来自体外活化B细胞慢性淋巴细胞白血病细胞超深序的De Novo IghV突变检测：活化诱导的脱氨酶功能的证据
5. Psychosocial Concerns for Families Impacted by Pontocerebellar Hypoplasia [D] . Praseed, Malavika. 2019

机译：对Pontocerebellar发育不全影响的家庭的心理社会问题
6. Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis [O] . Elisa Scola, Mario Ganau, Robert Robinson, 2019

机译：由于AMPD2突变引起的三种情况下Pontocerebellar发育不全型的神经加理发现：典型的MRI出场和鉴别诊断的珍珠
7. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations [O] . Eggens, Veerle R.C., Barth, Peter G., Niermeijer, Jikke-Mien F., 2017

机译：pontocerebellar发育不全1型的EXOsC3突变：新突变和基因型 - 表型相关性

A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

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