Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing-Reference-Cited by-全球学者库

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Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing

Published:2018-06 Issue: Volume:661 Page:182-188
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Feng Yu,Chen Runsen,Da Min,Qian Bo,Mo Xuming^ORCID

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference38 articles.

1. Fanconi anemia;Alter,1993

2. Genetic players in esophageal atresia and tracheoesophageal fistula;Brunner;Curr. Opin. Genet. Dev.,2005

3. VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene;Cox;Am. J. Med. Genet.,1997

4. The Fanconi anaemia/BRCA pathway;D'Andrea;Nat. Rev. Cancer,2003

5. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group;Faivre;Blood,2000

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus;American Journal of Medical Genetics Part A;2022-09-22

2. Genetic analysis of failed male puberty using whole exome sequencing;Journal of Pediatric Endocrinology and Metabolism;2022-09-15

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