Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Nature Genetics

Volumn 44, Issue 4, 2012, Pages 381-389

  Mitchison, Hannah M ^a   Schmidts, Miriam ^a   Loges, Niki T ^b   Freshour, Judy ^c   Dritsoula, Athina ^a   Hirst, Rob A ^d   O'Callaghan, Christopher ^d   Blau, Hannah ^e,h   Al Dabbagh, Maha ^f   Olbrich, Heike ^b   Beales, Philip L ^a   Yagi, Toshiki ^g   Mussaffi, Huda ^e,h   Chung, Eddie M K ^a   Omran, Heymut ^b   Mitchell, David R ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^d UNIVERSITY OF LEICESTER   (United Kingdom)

^e SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^f KING FAHD ARMED FORCES HOSPITAL   (Saudi Arabia)

^g UNIVERSITY OF TOKYO   (Japan)

^h TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AXONEMAL DYNEIN; DNAAF3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHLAMYDOMONAS REINHARDTII; CILIARY DYSKINESIA; CONTROLLED STUDY; GENE MUTATION; HUMAN; HYDROCEPHALUS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIMARY CILIARY DYSKINESIA; PRIORITY JOURNAL; SITUS INVERSUS;

AMINO ACID SEQUENCE; ANIMALS; AXONEMAL DYNEINS; BACTERIAL PROTEINS; BASE SEQUENCE; CHLAMYDOMONAS REINHARDTII; CILIA; CYTOPLASM; FEMALE; HUMANS; KARTAGENER SYNDROME; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SITUS INVERSUS; ZEBRAFISH; ZEBRAFISH PROTEINS;

CHLAMYDOMONAS REINHARDTII; DANIO RERIO;

EID: 84859436123     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1106     Document Type: Article

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