A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Human Genetics

Volumn 117, Issue 6, 2005, Pages 528-535

  Wattenhofer, Marie ^a,f   Sahin Calapoglu, Nilüfer ^b   Andreasen, Ditte ^c   Kalay, Ersan ^d,e   Caylan, Refik ^e   Braillard, Bastien ^a   Fowler Jaeger, Nicole ^b   Reymond, Alexandre ^c   Rossier, Bernard C ^c   Karaguzel, Ahmet ^e   Antonarakis, Stylianos E ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b SULEYMAN DEMIREL UNIVERSITY   (Turkey)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYSTEINE RICH PROTEIN 61; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR A; SCAVENGER RECEPTOR; SERINE PROTEINASE; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CHROMOSOME 21Q; CLINICAL ARTICLE; CONGENITAL DEAFNESS; FEMALE; GENE SEQUENCE; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; HUMAN GENOME; MALE; MISSENSE MUTATION; NONHUMAN; NONSYNDROMIC DEAFNESS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; SYNDROME; TMPRSS3 GENE; TURKEY (REPUBLIC); XENOPUS;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 21; DEAFNESS; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASM PROTEINS; PEDIGREE; SERINE ENDOPEPTIDASES;

ANIMALIA;

EID: 27544455732     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1332-x     Document Type: Article

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