Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

BMC Medical Genetics

Volumn 5, Issue , 2004, Pages

  Ahmed, Zubair M ^a   Li, Xiaoyan Cindy ^a,f   Powell, Shontell D ^a   Riazuddin, Saima ^a   Young, Terry Lynn ^c   Ramzan, Khushnooda ^b   Ahmad, Zahoor ^b   Luscombe, Sandra ^c   Dhillon, Kiran ^d   MacLaren, Linda ^e   Ploplis, Barbara ^a   Shotland, Lawrence I ^a,g   Ives, Elizabeth ^c   Riazuddin, Sheikh ^b   Friedmann, Thomas B ^a   Morell, Robert J ^a   Wilcox, Edward R ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^d UNIVERSITY OF WASHINGTON   (United States)

^e ALBERTA CHILDREN'S HOSPITAL   (Canada)

^f Laboratory of Molecular Oncology   (United States)

^g James H Quillen VA Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ISOPROTEIN; SERINE PROTEINASE; SERINE PROTEINASE TMPRSS3; SIGNAL PEPTIDE; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; TMPRSS3 PROTEIN, HUMAN; TUMOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOINFORMATICS; CANADA; CONGENITAL DEAFNESS; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FAMILY STUDY; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; RECESSIVE INHERITANCE; ALLELE; AMINO ACID SEQUENCE; CHEMISTRY; FEMALE; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE; RECESSIVE GENE;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; DEAFNESS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; NEWFOUNDLAND AND LABRADOR; PAKISTAN; PEDIGREE; PROTEIN ISOFORMS; SERINE ENDOPEPTIDASES;

EID: 26444617226     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-5-24     Document Type: Article

References (14)

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