A novel variant mutation for congenital dyserythropoietic anemia, type II

Blood Cells Mol Dis. 2014 Dec;53(4):272-3. doi: 10.1016/j.bcmd.2014.04.003. Epub 2014 May 5.

Authors

Joo Y Song¹, Anjali Pawar², Christin Collins³

Affiliations

¹ University of California, Davis, Department of Pathology, Sacramento, CA, United States. Electronic address: [email protected].
² University of California, Davis, Children's Hospital, Sacramento, CA, United States.
³ Emory University, Department of Human Genetics, Atlanta, GA, United States.

PMID: 24801741
DOI: 10.1016/j.bcmd.2014.04.003

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Anemia, Dyserythropoietic, Congenital / genetics*
Anemia, Dyserythropoietic, Congenital / pathology
Child, Preschool
DNA Mutational Analysis
Exons
Female
Humans
Introns
Male
Mutation*
Pedigree
Vesicular Transport Proteins / genetics*

Substances

SEC23B protein, human
Vesicular Transport Proteins