Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

European Journal of Human Genetics

Volumn 24, Issue 3, 2016, Pages 459-462

  Mayer, Anja K ^a   Rohrschneider, Klaus ^b   Strom, Tim M ^c   Glöckle, Nicola ^d   Kohl, Susanne ^a   Wissinger, Bernd ^a   Weisschuh, Nicole ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d CEGAT GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COMPUTER MODEL; CONE ROD DYSTROPHY; EXON; GENE; GENE ACTIVATION; GENE FUNCTION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; INTRON; NULL ALLELE; PRIORITY JOURNAL; PROM1 GENE; RAB28 GENE; REPORTER GENE; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; AMINO ACID SEQUENCE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; HOMOZYGOTE; HUMAN GENOME; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RETINITIS PIGMENTOSA;

CD133 ANTIGEN; GLYCOPROTEIN; LEUKOCYTE ANTIGEN; PEPTIDE; PROM1 PROTEIN, HUMAN;

AC133 ANTIGEN; AMINO ACID SEQUENCE; ANTIGENS, CD; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GLYCOPROTEINS; HEK293 CELLS; HOMOZYGOTE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEPTIDES; RETINITIS PIGMENTOSA; RNA SPLICING;

EID: 84958121992     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.144     Document Type: Article

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