Identification of a new mutation of the myosin VII head region in usher syndrome type 1

Human Mutation

Volumn 10, Issue 2, 1997, Pages 168-170

  Liu, Xue Zhong ^a   Newton, Valerie E ^b   Steel, Karen P ^c   Brown, Steve D M ^a,d  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c MRC INSTITUTE OF HEARING RESEARCH   (United Kingdom)

^d MAC Mouse Genome Centre   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; USHER SYNDROME;

CHILD; DISEASES IN TWINS; FRAMESHIFT MUTATION; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSINS; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0030805901     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y     Document Type: Article

References (6)

1. Gibson F, Walsh J, Mburu F, Varela A, Brown KA, Antonio M, Beisel KW, Steel KR Brown SDM (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374:62-64.
2. Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frezal J, Munnich A (1992) A gene for Usher syndrome type I gene maps to chromosome 14q. Genomics 14:979-987.
3. Kimberling WJ, Moller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Rearsdon W, Weston MD, Kenyon JB, Grunkemeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower AM, Hoover DM, Rowland P, Smith RJH (1992) Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14:988-994.
4. Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats JB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmacik JF (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995-1002.
5. Usher CHR (1914) On the inheritance of retinitis pigmentosa with notes of cases. R. Lond Ophthamol Hosp. Rep 19:130-236.
6. Weil D, Blanchard S, Kaplan J, Guliford P, Gibson F, Walsh J, Mburu P, Varela A, Levilllers J, Weston MD, Kelly PM, Kimberling WJ, Wagenaar M, Munnich A, Steel KP, Brown SDM, Petit C (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61