Branchio-oto-renal syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

European Journal of Human Genetics

Volumn 15, Issue 11, 2007, Pages 1121-1131

  Sanggaard, Kirsten Marie ^a,b   Rendtorff, Nanna Dahl ^a   Kjaer, Klaus Wilbrandt ^a   Eiberg, Hans ^c   Johnsen, Torsten ^d   Gimsing, Steen ^e   Dyrmose, Jørgen ^f   Nielsen, Kristian Otto ^g   Lage, Kasper ^h   Tranebjæ rg, Lisbeth ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b BISPEBJERG HOSPITAL   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d Gl Kongevej 25   (Denmark)

^e LILLEBAELT HOSPITAL   (Denmark)

^f Seligmannsvej 14   (Denmark)

^g Anæstesiologisk Center   (Denmark)

^h TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

Author keywords

BOR syndrome; EYA1; SIX1; Syndromic hearing impairment

Indexed keywords

GENE PRODUCT; MESSENGER RNA; PROTEIN EYA1; TRANSCRIPTION FACTOR SIX1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MALFORMATION; BRANCHIO OTO RENAL SYNDROME; DENMARK; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TEMPORAL BONE;

AMINO ACID SEQUENCE; ANIMALS; BRANCHIO-OTO-RENAL SYNDROME; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; LINKAGE (GENETICS); MALE; MICE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; POINT MUTATION; PROTEIN TYROSINE PHOSPHATASES; SEQUENCE ANALYSIS, DNA; TEMPORAL BONE;

EID: 35548944960     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201900     Document Type: Article

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