Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia

Chest

Volumn 121, Issue 3, 2002, Pages

  Noone, Peadar G ^a   Zariwala, Maimoona ^a   Sannuti, Aruna ^a   Minnix, Susan ^a   Leigh, Margaret W ^a   Carson, Johnny ^a   Knowles, Michael R ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; PROTEIN; PROTEIN DNAI1; THYMINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; BRONCHIECTASIS; CELL ULTRASTRUCTURE; CILIARY DYSKINESIA; CILIARY MOTILITY; CLINICAL ARTICLE; CODON; CONFERENCE PAPER; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUCOCILIARY CLEARANCE; NONSENSE MUTATION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN FOLDING;

EID: 18144440631     PISSN: 00123692     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0012-3692(15)35500-8     Document Type: Conference Paper

References (1)

1. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia