BBS10 mutations are common in 'Meckel'-type cystic kidneys

Journal of Medical Genetics

Volumn 47, Issue 12, 2010, Pages 848-852

  Putoux, Audrey ^a   Mougou Zerelli, Soumaya ^a,b,c   Thomas, Sophie ^a   Elkhartoufi, Nadia ^a   Audollent, Sophie ^a   Le Merrer, Martine ^a   Lachmeijer, Augusta ^d   Sigaudy, Sabine ^e   Buenerd, Annie ^f   Fernandez, Carla ^e   Delezoide, Anne Lise ^b,g   Gubler, Marie Claire ^a   Salomon, Rémi ^a,b   Saad, Ali ^c   Cordier, Marie Pierre ^f   Vekemans, Michel ^a,b   Bouvier, Raymonde ^f   Attie Bitach, Tania ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e TIMONE HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BARDET BIEDL SYNDROME; BBS10 GENE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; ENCEPHALOCELE; FEMALE; FETUS; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; KIDNEY POLYCYSTIC DISEASE; MALE; MECKEL SYNDROME; NEWBORN; NONSENSE MUTATION; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GROUP II CHAPERONINS; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MOLECULAR SEQUENCE DATA; MUTATION; YOUNG ADULT;

EID: 78649619999     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.079392     Document Type: Article

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