Diagnostic exome sequencing and tailored bioinformatics of the parents of a deceased child with cobalamin deficiency suggests digenic inheritance of the MTR and LMBRD1 genes

JIMD Reports

Volumn 15, Issue , 2015, Pages 29-37

  Farwell Gonzalez, Kelly D ^a   Li, Xiang ^a   Lu, Hsiao Mei ^a   Lu, Hong ^a   Pellegrino, Joan E ^b   Miller, Ryan T ^b   Zeng, Wenqi ^a   Chao, Elizabeth C ^a,c  

^a AMBRY GENETICS   (United States)

^b State University of New York Upstate Medical University: College of Medicine   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cobalamin deficiency; Exome sequencing; Facioscapulohumeral muscular dystrophy; Human gene mutation database; Megaloblastic anemia

Indexed keywords

EID: 85060307189     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_294     Document Type: Chapter

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