A novel heterozygous frameshift c.277del p.Thr93Leufs*21 mutation in SERPINC1 associated with type 1 antithrombin deficiency

Pediatr Blood Cancer. 2024 Jun;71(6):e30986. doi: 10.1002/pbc.30986. Epub 2024 Apr 2.

Authors

Riten Kumar^{1

2}, Juliann Duzan¹, Emily Drake¹, Jennifer Dawson³

Affiliations

¹ Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
² Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
³ Genomic Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

PMID: 38563157
DOI: 10.1002/pbc.30986

No abstract available

Publication types

Letter
Case Reports

MeSH terms

Antithrombin III Deficiency* / genetics
Antithrombin III* / genetics
Female
Frameshift Mutation*
Heterozygote*
Humans
Male

Substances

SERPINC1 protein, human
Antithrombin III