C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

Ophthalmic Genetics

Volumn 37, Issue 3, 2016, Pages 290-293

  Khan, Arif O ^a,b   Decker, Eva ^c   Bachmann, Nadine ^c   Bolz, Hanno J ^c,d   Bergmann, Carsten ^c,e  

^a HEART AND VASCULAR INSTITUTE   (United Arab Emirates)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c Bioscientia Center for Human Genetics   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Bardet Biedl syndrome (BBS); C8orf37; cilia ciliopathies; cone rod dystrophy; pleiotropy; retinitis pigmentosa (RP)

Indexed keywords

ARGININE; C8ORF37 PROTEIN; GENOMIC DNA; PROTEIN; TRYPTOPHAN; UNCLASSIFIED DRUG; C8ORF37 PROTEIN, HUMAN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CHILD; COPY NUMBER VARIATION; EXON; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; HUMAN; LIBRARY; MALE; NON SYNDROMIC RETINAL DYSTROPHY; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; BARDET-BIEDL SYNDROME; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PHENOTYPE; RECESSIVE GENE; RETINAL DYSTROPHIES;

ALLELES; BARDET-BIEDL SYNDROME; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEINS; RETINAL DYSTROPHIES;

EID: 84958549007     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2015.1066830     Document Type: Article

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