Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1446-1448

  Alsaadi, Muslim M ^a   Erzurumluoglu, A Mesut ^b   Rodriguez, Santiago ^b   Guthrie, Philip A I ^b   Gaunt, Tom R ^b,c   Omar, Hager Z ^a   Mubarak, Mohammad ^d   Alharbi, Khalid K ^e   Al Rikabi, Ammar C ^d   Day, Ian N M ^b  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

CCDC151; Ciliopathy; Primary ciliary dyskinesia; Respiratory cilia

Indexed keywords

CARRIER PROTEIN; COILED-COIL DOMAIN-CONTAINING PROTEIN 151, HUMAN; STOP CODON;

GENETIC PREDISPOSITION; GENETICS; HUMAN; KARTAGENER SYNDROME; STOP CODON;

CARRIER PROTEINS; CODON, NONSENSE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KARTAGENER SYNDROME;

EID: 84911454844     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22698     Document Type: Article

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