OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

American Journal of Human Genetics

Volumn 85, Issue 4, 2009, Pages 465-481

  Coene, Karlien L M ^a,b   Roepman, Ronald ^a,b   Doherty, Dan ^c   Afroze, Bushra ^d   Kroes, Hester Y ^e   Letteboer, Stef J F ^a   Ngu, Lock H ^d   Budny, Bartlomiej ^f   van Wijk, Erwin ^a   Gorden, Nicholas T ^c   Azhimi, Malika ^a   Thauvin Robinet, Christel ^g   Veltman, Joris A ^a,b   Boink, Mireille ^a   Kleefstra, Tjitske ^a   Cremers, Frans P M ^a,b   van Bokhoven, Hans ^a,b   de Brouwer, Arjan P M ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d HOSPITAL KUALA LUMPUR   (Malaysia)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^g Medical University of Dijon   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; LEBERCILIN; PROTEIN; RECOMBINANT PROTEIN; TELOMERASE REVERSE TRANSCRIPTASE; UNCLASSIFIED DRUG; EYE PROTEIN; LCA5 PROTEIN, RAT; LEBERCILIN PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; OFD1 PROTEIN, HUMAN; OFD1 PROTEIN, RAT;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ARTICLE; CHILD; CHROMOSOME XP; DNA SEQUENCE; EXON; FEMALE; GENE; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; JOUBERT SYNDROME; LEBER CONGENITAL AMAUROSIS; LEBER CONGENITAL AMAUROSIS 5 GENE; MAJOR CLINICAL STUDY; MALAYSIA; MALE; MENTAL DEFICIENCY; MOLAR TOOTH; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ORAL FACIAL DIGITAL TYPE 1 GENE; PHENOTYPE; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RAT; RETINITIS PIGMENTOSA; RNA ISOLATION; RNA SYNTHESIS; SCHOOL CHILD; SIMPSON GOLABI BEHMEL SYNDROME; TWO HYBRID SYSTEM; X CHROMOSOME RECESSIVE INHERITANCE; YEAST; ANIMAL; FAMILY HEALTH; GENETICS; MUTATION; SEX DIFFERENCE; SYNDROME; WISTAR RAT; X CHROMOSOME;

ANIMALS; EYE PROTEINS; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PROTEINS; RATS; RATS, WISTAR; SEX FACTORS; SYNDROME; TWO-HYBRID SYSTEM TECHNIQUES; X CHROMOSOME;

EID: 70350494065     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.002     Document Type: Article

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