Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Nature Genetics

Volumn 27, Issue 1, 2001, Pages 59-63

  Scott, Hamish S ^a,b   Kudoh, Jun ^c   Wattenhofer, Marie ^a   Shibuya, Kazunori ^c   Berry, Asher ^d   Chrast, Roman ^a   Guipponi, Michel ^a   Wang, Jun ^c   Kawasaki, Kazuhiko ^c   Asakawa, Shuichi ^c   Minoshima, Shinsei ^c   Younus, Farah ^e   Mehdi, S Qasim ^e   Radhakrishna, Uppala ^a   Papasavvas, Marie Pierre ^a   Gehrig, Corinne ^a   Rossier, Colette ^a   Korostishevsky, Michael ^d   Gal, Andreas ^f   Shimizu, Nobuyoshi ^c   Bonne Tamir, Batsheva ^d   Antonarakis, Stylianos E ^a   more..

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c KEIO UNIVERSITY   (Japan)

^d TEL AVIV UNIVERSITY   (Israel)

^e Biomed and Genetic Eng Division   (Pakistan)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; SERINE PROTEINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AGE OF ONSET; BASE SEQUENCE; CHILD; CONSANGUINITY; CONTIG MAPPING; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA, SATELLITE; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ISRAEL; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; NEOPLASM PROTEINS; PAKISTAN; PEDIGREE; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE ALIGNMENT; SERINE ENDOPEPTIDASES;

EID: 0035167046     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/83768     Document Type: Article

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