Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

American Journal of Human Genetics

Volumn 81, Issue 1, 2007, Pages 170-179

  Baala, Lekbir ^a,b   Audollent, Sophie ^a   Martinovic, Jéléna ^a   Ozilou, Catherine ^a   Babron, Marie Claude ^g   Sivanandamoorthy, Sivanthiny ^a   Saunier, Sophie ^a   Salomon, Rémi ^a   Gonzales, Marie ^a   Rattenberry, Eleanor ^h   Esculpavit, Chantal ^b   Toutain, Annick ⁱ   Moraine, Claude ⁱ   Parent, Philippe ^j   Marcorelles, Pascale ^j   Dauge, Marie Christine ^d   Roume, Joëlle ^k   Merrer, Martine Le ^a,b   Meiner, Vardiella ^a,l   Meir, Karen ^l   Menez, Francoise ^e,h   Beaufrère, Anne Marie ^m   Francannet, Christine ^m   Tantau, Julia ^f   Sinico, Martine ⁿ   Dumez, Yves ^c   MacDonald, Fiona ^e,h   Munnich, Arnold ^a,b   Lyonnet, Stanislas ^a,b   Gubler, Marie Claire ^a   Génin, Emmanuelle ^g   Johnson, Colin A ^o   Vekemans, Michel ^a,b   Encha Razavi, Férechté ^a,b   Attié Bitach, Tania ^a,b,c   more..

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d BICHAT HOSPITAL   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f HÔPITAL SAINT VINCENT DE PAUL   (France)

^g INSERM   (France)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

ⁱ CHU BRETONNEAU   (France)

^j CHU MORVAN   (France)

^k CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^l HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^m HÔTEL DIEU   (France)

ⁿ CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^o ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEP290 GENE; CHROMOSOME 12; CLINICAL ARTICLE; CLINICAL FEATURE; FETUS; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN GENOME; HUMAN TISSUE; LINKAGE ANALYSIS; MECKEL SYNDROME; MICROSATELLITE MARKER; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 34347224779     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/519494     Document Type: Article

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