Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR.

Docquier, M; Nouspikel, T; Blouin, J L; Abramowicz, M; Seebach, J D; Spoerl, D

Docquier, M; Nouspikel, T; Blouin, J L; Abramowicz, M; Seebach, J D; Spoerl, D.

Afiliación

Docquier M; iGE3 (Institute of Genetics and Genomics of Geneva) Genomics platform, University of Geneva, Geneva, Switzerland.
Nouspikel T; Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Blouin JL; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Abramowicz M; Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Seebach JD; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Spoerl D; Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.

Clin Exp Allergy ; 54(1): 82-85, 2024 01.

Article en En | MEDLINE | ID: mdl-37853996

Asunto(s)

Anafilaxia; Síndrome de Activación de Mastocitos; Mastocitosis; Humanos; Variaciones en el Número de Copia de ADN; Mastocitos; Reacción en Cadena de la Polimerasa; Triptasas

Palabras clave

TPSAB1 gene; anaphylaxis; copy number variation; hereditary alpha tryptasemia; mastocytosis

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mastocitosis / Síndrome de Activación de Mastocitos / Anafilaxia Idioma: En Revista: Clin Exp Allergy Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2024 Tipo del documento: Article

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