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

DEMİR K., Nalbantoglu O., Karaer K., Korkmaz H. A., Yildiz M., Tunc S., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.7, no.4, pp.356-357, 2015 (SCI-Expanded, Scopus, TRDizin)

• Publication Type: Article / Letter
• Volume: 7 Issue: 4
• Publication Date: 2015
• Doi Number: 10.4274/jcrpe.2597
• Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
• Page Numbers: pp.356-357
• Keywords: Mutation, TCIRG1, CLCN7, osteopetrosis, whole exome analysis
• Dokuz Eylül University Affiliated: Yes