Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

Journal of medical genetics

Volumn 44, Issue 6, 2007, Pages

  Elbracht, Miriam ^a   Senderek, Jan ^a   Eggermann, Thomas ^a   Thürmer, Christian ^a   Park, Jonas ^a   Westhofen, Martin ^a   Zerres, Klaus ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; SERINE PROTEINASE; TMPRSS3 PROTEIN, HUMAN; TUMOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CAUCASIAN; EXON; FEMALE; GENETICS; GERMANY; HEARING LOSS; HETEROZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; SIBLING;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENES, RECESSIVE; GERMANY; HEARING LOSS; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PEDIGREE; SERINE ENDOPEPTIDASES; SIBLINGS;

EID: 34250807826     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2007.049122     Document Type: Article

References (0)