A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl - Sorbonne Université
Journal Articles BMJ Case Reports Year : 2012

A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl

Nadia Nathan
  • Function : Author
Emmanuelle Girodon
  • Function : Author
Annick Clement
Harriet Corvol
  • Function : Author
Mucoviscidose: physiopathologie et phénogénomique [CRSA]
CHU Trousseau [APHP]
Centre de Ressources Biologiques APHP-SU

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Life Sciences [q-bio]

Harriet Corvol  : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-03967383

Submitted on : Wednesday, February 1, 2023-12:35:33 PM

Last modification on : Tuesday, December 3, 2024-3:24:03 PM

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hal-03967383 , version 1 (01-02-2023)

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Nadia Nathan, Emmanuelle Girodon, Annick Clement, Harriet Corvol. A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl. BMJ Case Reports, 2012, 2012 (nov07 1), pp.bcr2012006918-bcr2012006918. ⟨10.1136/bcr-2012-006918⟩. ⟨hal-03967383⟩

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U938 OMIQUE SORBONNE-UNIVERSITE SU-MEDECINE SU-SCIENCES PASS PASS-CRB-APHP-SU SU-PLATEFORMES
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