Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

Human Genetics

Volumn 127, Issue 5, 2010, Pages 583-593

  Muller, Jean ^a,b   Stoetzel, C ^b   Vincent, M C ^a   Leitch, C C ^c   Laurier, V ^b   Danse, J M ^b   Helle S ^b   Marion, V ^b   Bennouna Greene, V ^b   Vicaire, S ^b   Megarbane, A ^d   Kaplan, J ^e   Drouin Garraud, V ^f   Hamdani, M ^g   Sigaudy, S ^h   Francannet, C ⁱ   Roume, J ^j   Bitoun, P ^k   Goldenberg, A ^f   Philip, N ^h   Odent, S ^l   Green, J ^m   Cossee M ^a   Davis, E E ^c,n   Katsanis, N ^c,n   Bonneau, D ^o   Verloes, A ^p   Poch, O ^b   Mandel, J L ^a,b,q   Dollfus, H ^b   more..

^a HÔPITAL CIVIL   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HÔPITAL CHARLES NICOLLE   (France)

^g IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^h TIMONE HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^j CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^k HÔPITAL JEAN VERDIER   (France)

^l SERVICE DE RHUMATOLOGIE   (France)

^m MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

ⁿ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^o ANGERS UNIVERSITY HOSPITAL   (France)

^p HÔPITAL ROBERT DEBRÉ   (France)

^q l'alimentation et l'Environnement   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; COHORT ANALYSIS; CONSANGUINITY; FAMILY STUDY; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; ADULT; AGED; CHROMOSOME MAP; DECISION TREE; DNA SEQUENCE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; BARDET-BIEDL SYNDROME; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME MAPPING; DECISION TREES; FEMALE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC TESTING; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

MICROSATELLITE DNA;

EID: 77951629928     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0804-9     Document Type: Article

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