A mutation in PDS causes non-syndromic recessive deafness

Nature Genetics

Volumn 18, Issue 3, 1998, Pages 215-217

  Li, Xiaoyan C ^a   Everett, Lorraine A ^b   Lalwani, Anil K ^c   Desmukh, Dilip ^d   Friedman, Thomas B ^a   Green, Eric D ^b   Wilcox, Edward R ^a  

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

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Rotary Deaf School   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHROMOSOME 7; COCHLEA; CONGENITAL MALFORMATION; FEMALE; GENETIC LINKAGE; GENETIC MARKER; GENETICS; GOITER; HOMOZYGOTE; HUMAN; LETTER; MALE; MOLECULAR GENETICS; MUTATION; PEDIGREE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; RECESSIVE GENE; SEQUENCE HOMOLOGY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; COCHLEA; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GOITER; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032011145     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0398-215     Document Type: Letter

References (13)

1. Batsakis, J.G. & Nishiyama, R.H. Arch. Otolaryngol. 76, 401-406 (1962).
2. Reardon, W. & Trembath, R.C. J. Med. Genet 33, 1037-1040(1996).
3. Baldwin, C.T. et al. Hum. Mol. Genet. 4, 1637-1642 (1995).
4. Hjelstuen, O.K. Analyst 120, 863-866 (1995).
5. Johnsen, T. et al. J. Laryngol. Otol. 101, 1187-1192 (1987).
6. Everett, LA. et al. Nature Genet. 17, 411-422 (1997).
7. Gausden, E. et al. J. Med. Genet. 34, 126-129 (1997).
8. Arcand, P. et al. J. Otolaryngol. 20, 247-250 (1991).
9. Welsh, M.J. & Smith, A.E. Cell 73, 1251-1254 (1993).
10. Gibson, F. et al. Nature 374, 62-64 (1995).
11. Liu, X.Z. et al. Nature Genet. 16, 188-190(1997).
12. Liu, X.Z. et al. Nature Genet. 17, 268-269 (1997).
13. Weil, D. et al. Nature Genet. 16, 191-193 (1997).