Identification by whole-exome sequencing of novel mutation c.64C > G in the BTK gene of a fetus with X-linked agammaglobulinemia

Ultrasound Obstet Gynecol. 2015 Jun;45(6):753-4. doi: 10.1002/uog.14738.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / diagnostic imaging
  • Agammaglobulinemia / genetics*
  • Exome*
  • Female
  • Genetic Diseases, X-Linked / diagnostic imaging
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Mutation*
  • Pregnancy
  • Protein-Tyrosine Kinases / genetics*
  • Ultrasonography, Prenatal

Substances

  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human

Supplementary concepts

  • Bruton type agammaglobulinemia