Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

Human Mutation

Volumn 27, Issue 7, 2006, Pages 633-639

  Kalay, Ersan ^a,b   Li, Yun ^c   Uzumcu, Abdullah ^d   Uyguner, Oya ^d   Collin, Rob W ^a   Caylan, Refik ^b   Ulubil Emiroglu, Melike ^d   Kersten, Ferry F J ^a   Hafiz, Gunter ^d   Van Wijk, Erwin ^a   Kayserili, Hulya ^d   Rohmann, Edyta ^c   Wagenstaller, Janine ^e   Hoefsloot, Lies H ^a   Strom, Tim M ^e,f   Nürnberg, Gudrun ^a   Baserer, Nermin ^d   Den Hollander, Anneke I ^a,i   Cremers, Frans P M ^a,i   Cremers, Cor W R J ^a   Becker, Christian ^g,h   Brunner, Han G ^a,i   Nürnberg, Peter ^c,g   Karaguzel, Ahmet ^b   Basaran, Seher ^d   Kubisch, Christian ^c   Kremer, Hannie ^a   Wollnik, Bernd ^c,d   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^c UNIVERSITY OF COLOGNE   (Germany)

^d ISTANBUL UNIVERSITY   (Turkey)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF COLOGNE   (Germany)

^h German Genome Resource Center RZPD   (Germany)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive; Deafness; Gene identification; Hearing loss; LHFPL5

Indexed keywords

DNA BASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS; BASE PAIRING; CHROMOSOME 6P; COCHLEA; CONSANGUINEOUS MARRIAGE; FAMILY; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HEARING LOSS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LHFPL5 GENE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC);

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HAPLOTYPES; HEARING LOSS, BILATERAL; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 33745700373     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20368     Document Type: Article

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