Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

Ophthalmic Genetics

Volumn 33, Issue 1, 2012, Pages 18-22

  Aliferis, K ^a   Helle S ^b   Gyapay, G ^c   Duchatelet, S ^d   Stoetzel, C ^b   Mandel, J L ^d   Dollfus, H ^a,b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

ALMS1 gene; Alstr m syndrome; Bardet Biedl syndrome; retinal ciliopathy

Indexed keywords

AHI1 GENE; ALMS1 GENE; ALSTROM SYNDROME; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS10 GENE; BBS11 GENE; BBS12 GENE; BBS2 GENE; BBS3 GENE; BBS4 GENE; BBS5 GENE; BBS6 GENE; BBS7 GENE; BBS8 GENE; BBS9 GENE; C2ORF86 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; MALE; MGC1203 GENE; MKS1 GENE; MKS3 GENE; NPHP2 GENE; NPHP3 GENE; NPHP4 GENE; NPHP5 GENE; NPHP6 GENE; NPHP7 GENE; NPHP8 GENE; PRIORITY JOURNAL; SDCCAG8 GENE; SYSTEMATIC CILIOPATHY GENES SEQUENCING; TTC21B GENE;

ALSTROM SYNDROME; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTRONS; MALE; MUTATION; NYSTAGMUS, CONGENITAL; OBESITY; PROTEINS; RETINAL DEGENERATION;

EID: 84856120842     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.620055     Document Type: Article

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