Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Abhyankar, Avinash; Lamendola-Essel, Michelle; Brennan, Kelly; Giordano, Jessica L; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi

Abhyankar, Avinash; Lamendola-Essel, Michelle; Brennan, Kelly; Giordano, Jessica L; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi.

Afiliación

Abhyankar A; Molecular Diagnostics New York Genome Center New York city New York.
Lamendola-Essel M; Molecular Diagnostics New York Genome Center New York city New York.
Brennan K; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
Giordano JL; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
Esteves C; Molecular Diagnostics New York Genome Center New York city New York.
Felice V; Molecular Diagnostics New York Genome Center New York city New York.
Wapner R; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
Jobanputra V; Molecular Diagnostics New York Genome Center New York city New York.

Clin Case Rep ; 6(1): 200-205, 2018 01.

Article en En | MEDLINE | ID: mdl-29375865

Palabras clave

Archived newborn blood spot; asparagine synthetase; asparagine synthetase deficiency; dried blood spot; whole exome sequencing

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Case Rep Año: 2018 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google