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Article

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2017

Guissart C, Dubucs C, Raynal C, Girardet A, Tran Mau Them F, Debant V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Dupin Deguine D, Khau Van Kien P, Brechard M P, Pritchard V, Koenig M, Claustres M, Vincent M C

Abstract excerpt

BACKGROUND: Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited by the availability of suitable technical platforms and the need to set up patient or disease-specific custom-made approaches. METHODS: To make research applications more readily...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28040480
DOI: 10.1016/j.jcf.2016.12.011

Genes

CFTR
SRY

Variants

Provenance

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