Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Human Genetics

Volumn 129, Issue 1, 2011, Pages 79-90

  Janssen, Sabine ^a   Ramaswami, Gokul ^a   Davis, Erica E ^b   Hurd, Toby ^a   Airik, Rannar ^a   Kasanuki, Jennifer M ^a   Van Der Kraak, Lauren ^c   Allen, Susan J ^a   Beales, Philip L ^d   Katsanis, Nicholas ^b   Otto, Edgar A ^a   Hildebrandt, Friedhelm ^a,e  

^a UNIVERSITY OF MICHIGAN   (United States)

^b DUKE UNIVERSITY   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; HETERODUPLEX;

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POOLING; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC PROCEDURES; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPOGONADISM; MASSIVELY PARALLEL RESEQUENCING; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; PATHOGENICITY; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CHROMOSOME MAPPING; COHORT STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC HETEROGENEITY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GROUP II CHAPERONINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS;

EID: 78651255163     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0902-8     Document Type: Article

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