New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

Molecular Vision

Volumn 16, Issue , 2010, Pages 137-143

  Pereiro, Ines ^a   Valverde, Diana ^a   Piñeiro Gallego, Teresa ^a   Baiget, Montserrat ^b   Borrego, Salud ^c   Ayuso, Carmen ^d   Searby, Charles ^e   Nishimura, Darryl ^f  

^a UNIVERSITY OF VIGO   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR 6; BARDET BIEDL SYNDROME 12 PROTEIN; BARDET BIEDL SYNDROME 6 PROTEIN; CHROMOSOME PROTEIN; UNCLASSIFIED DRUG; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; CAUCASIAN; CHILD; CHROMOSOME ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NULL ALLELE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; VISUAL ACUITY; VISUAL FIELD DEFECT; AMINO ACID SEQUENCE; CHEMISTRY; CHROMOSOME MAP; FAMILY; GENE LOCUS; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; MUTATION; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CONSANGUINITY; FAMILY; FEMALE; GENETIC LOCI; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 77949314565     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

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