B9d1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Human Molecular Genetics

Volumn 20, Issue 13, 2011, Pages 2524-2534

  Hopp, Katharina ^a   Heyer, Christina M ^b   Hommerding, Cynthia J ^b   Henke, Susan A ^b   Sundsbak, Jamie L ^b   Patel, Shail ^b   Patel, Priyanka ^b   Consugar, Mark B ^b   Czarnecki, Peter G ^b   Gliem, Troy J ^b   Torres, Vicente E ^b   Rossetti, Sandro ^b   Harris, Peter C ^a,b  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CC2D2A PROTEIN; CEP20 PROTEIN; PROTEIN; RPGRIP1L PROTEIN; SPLICED LEADER RNA; TMEM290 PROTEIN; TMEM67 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; B9D1 GENE; CAENORHABDITIS ELEGANS; CLINICAL ARTICLE; EUKARYOTIC FLAGELLUM; EXON; FAMILY; FETUS; FLAGELLUM; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE SEQUENCE; GENE STRUCTURE; GENE TARGETING; GENETIC ANALYSIS; HEMIZYGOSITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MECKEL SYNDROME; MISSENSE MUTATION; NONHUMAN; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

AMINO ACID SEQUENCE; BASE SEQUENCE; CILIA; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; EXONS; FEMALE; FETUS; FIBROBLASTS; GENE ORDER; HUMANS; INTRACELLULAR SPACE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYCYSTIC KIDNEY DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; SEQUENCE DELETION;

CAENORHABDITIS ELEGANS;

EID: 79958763043     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr151     Document Type: Article

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