Bardet-Biedl syndrome in Denmark: Report of 13 novel sequence variations in six genes

Human Mutation

Volumn 31, Issue 4, 2010, Pages 429-436

  Hjortshøj, Tina Duelund ^a   Grønskov, Karen ^a   Philp, Alisdair R ^b   Nishimura, Darryl Y ^c   Riise, Ruth ^d   Sheffield, Val C ^c   Rosenberg, Thomas ^a   Brøndum Nielsen, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Des Moines University College of Osteopathic Medicine   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Bardet Biedl; Genotype phenotype; Retinitis pigmentosa; Triallelic inheritance

Indexed keywords

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BARDET BIEDL SYNDROME; BARDET BIEDL SYNDROME 1 GENE; BARDET BIEDL SYNDROME 10 GENE; BARDET BIEDL SYNDROME 12 GENE; BARDET BIEDL SYNDROME 2 GENE; BARDET BIEDL SYNDROME 4 GENE; BARDET BIEDL SYNDROME 6 GENE; CCDC28B GENE; CHILD; CLINICAL ARTICLE; DENMARK; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENETIC CONSERVATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CONSERVED SEQUENCE; DENMARK; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GROUP II CHAPERONINS; HUMANS; INHERITANCE PATTERNS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77950452937     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21204     Document Type: Article

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