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首页|期刊导航|眼科学报(英文版)|Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study

Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study

Vasiliki Chini Danai Stambouli Florina Mihaela Nedelea George Alexandru Filipescu Diana Mina Marios Kambouris Hatem El-Shanti

眼科学报(英文版)Issue(2):104-107,4.
眼科学报(英文版)Issue(2):104-107,4.DOI:10.3969/j.issn.1000-4432.2014.02.009

Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study

Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study

Vasiliki Chini 1Danai Stambouli 2Florina Mihaela Nedelea 2George Alexandru Filipescu 3Diana Mina 4Marios Kambouris 1Hatem El-Shanti1

作者信息

  • 1. Qatar Biomedical Research InstitudeQBRI-Medical Genetics Center, Doha, Qatar
  • 2. Cytogenomic Medical Laboratory, Bucharest, Romania
  • 3. Elias University Emergency Hospital, Bucharest, Romania
  • 4. University of Iowa, Internal Medicine, Iowa City, IA, USA
  • 折叠

摘要

关键词

gene mapping/mutation screening/norrie disease

Key words

gene mapping/mutation screening/norrie disease

引用本文复制引用

Vasiliki Chini,Danai Stambouli,Florina Mihaela Nedelea,George Alexandru Filipescu,Diana Mina,Marios Kambouris,Hatem El-Shanti..Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions:A Norrie Disease Case Study[J].眼科学报(英文版),2014,(2):104-107,4.

眼科学报(英文版)

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1000-4432

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