A nonsense mutation in the human homolog of drosophila rogdi causes Kohlschutter-Tonz syndrome

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 708-714

  Mory, Adi ^a,b   Dagan, Efrat ^b,c   Illi, Barbara ^d   Duquesnoy, Philippe ^e   Mordechai, Shikma ^b   Shahor, Ishai ^f   Romani, Sveva ^d   Hawash Moustafa, Nivin ^b   Mandel, Hanna ^a,f   Valente, Enza M ^d   Amselem, Serge ^e   Gershoni Baruch, Ruth ^a,b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b Institute of Human Genetics   (Israel)

^c UNIVERSITY OF HAIFA   (Israel)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e INSERM   (France)

^f NONE   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TUBULIN;

ADOLESCENT; ADULT; ALLELE; AMELOGENESIS IMPERFECTA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL NUCLEUS MEMBRANE; CHILD; CHROMOSOME 16P; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CONVULSION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA SEQUENCE; DROSOPHILA; DROSOPHILA ROGDI; EPILEPSY; FEMALE; GENE; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; ISRAEL; KOHLSCHUTTER TONZ SYNDROME; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; ROGDI GENE; SEIZURE; SPASTICITY; WILD TYPE;

ADOLESCENT; AGE OF ONSET; AMELOGENESIS IMPERFECTA; ANIMALS; ARABS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CODON, NONSENSE; DEMENTIA; DROSOPHILA; EPILEPSY; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ISRAEL; LOD SCORE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84859498735     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.03.005     Document Type: Article

References (12)

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