Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred bedouin families

Annals of Human Genetics

Volumn 74, Issue 2, 2010, Pages 117-125

  Reish, Orit ^a,b   Slatkin, Montgomery ^c   Chapman Shimshoni, Daphne ^a   Elizur, Arnon ^a   Chioza, Barry ^d   Castleman, Victoria ^d   Mitchison, Hannah M ^d  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Bedouin; Founder mutation; Primary ciliary dyskinesia

Indexed keywords

GENE PRODUCT; RADIAL SPOKE HEAD PROTEIN 9; UNCLASSIFIED DRUG;

ARAB; ARTICLE; CILIARY DYSKINESIA; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MALE; PATHOGENESIS; POPULATION GENETICS; POPULATION SIZE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; CONSANGUINITY; GENETICS; KARTAGENER SYNDROME; MUTATION;

ARABS; CONSANGUINITY; HUMANS; KARTAGENER SYNDROME; MUTATION;

EID: 77951924896     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00559.x     Document Type: Article

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