• Media type: E-Article
  • Title: Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters
  • Contributor: Lex, Christiane; Minso, Rebecca; Alfeis, Nadine; Rosewich, Hendrik; Schucht, Sylvia; Tümmler, Burkhard
  • Published: Elsevier BV, 2022
  • Published in: Journal of Cystic Fibrosis, 21 (2022) 2, Seite 375-377
  • Language: English
  • DOI: 10.1016/j.jcf.2021.08.018
  • ISSN: 1569-1993
  • Keywords: Pulmonary and Respiratory Medicine ; Pediatrics, Perinatology and Child Health
  • Origination:
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  • Access State: Open Access