Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy

被引：4

作者：

Demir, Korcan ^{[1
,2
]}

Nalbantoglu, Ozlem ^{[1
]}

Karaer, Kadri ^{[3
]}

Korkmaz, Huseyin Anil ^{[1
]}

Yildiz, Melek ^{[1
]}

Tunc, Selma ^{[1
]}

Ozkan, Behzat ^{[1
]}

机构：

[1] Dr Behcet Uz Childrens Hosp, Clin Pediat Endocrinol, Izmir, Turkey

[2] Dokuz Eylul Univ, Fac Med, Div Pediat Endocrinol, Izmir, Turkey

[3] Intergen Genet Ctr, Ankara, Turkey

来源：

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY | 2015年 / 7卷 / 04期

关键词：

Mutation; TCIRG1; CLCN7; osteopetrosis; whole exome analysis;

D O I：

10.4274/jcrpe.2597

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：356 / 357

页数：2

共 4 条

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