Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling

被引：3

作者：

Perez Maturo, Josefina ^{[1
,2
,3
]}

Vega, Patricia ^{[1
,2
,4
]}

Medina, Nancy ^{[1
,2
]}

Salinas, Valeria ^{[1
,2
,3
]}

Pauni, Micaela ^{[4
]}

Agosta, Guillermo ^{[4
]}

Muntadas Rausei, Javier ^{[4
]}

Kauffman, Marcelo ^{[1
,2
,3
]}

机构：

[1] UBA, Fac Med, Hosp JM Ramos Mejia, Ctr Univ Neurol,Consultorio Neurogenet, Buenos Aires, DF, Argentina

[2] UBA, Fac Med, Hosp JM Ramos Mejia, Div Neurol, Buenos Aires, DF, Argentina

[3] Univ Austral, CONICET, Programa Med Precis & Genom Clin, Fac Ciencias Biomed,Inst Invest Med Traslac, Buenos Aires, DF, Argentina

[4] Hosp Italiano Buenos Aires, Serv Neurol Infantil, Buenos Aires, DF, Argentina

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 06期

关键词：

SOMATIC MOSAICISM; MUTATIONS;

D O I：

10.1002/ajmg.a.61135

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1074 / 1076

页数：3

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