A frameshift mutation in SANS results in atypical Usher syndrome

[1] A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene [J]. BONE, 2005, 36 (06) : 943 - 947

[2] Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (02) : 946 - 951

[3] A perfect message: RNA surveillance and nonsense-mediated decay [J]. CELL, 1999, 96 (03) : 307 - 310

[4] A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome [J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (12): : 1025 - 1032

[5] Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (05) : 453 - 461

[6] Kimberling W J, 1995, J Am Acad Audiol, V6, P63

[7] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population [J]. HUMAN GENETICS, 2005, 116 (04) : 292 - 299

[8] Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (05) : 463 - 471

[9] An efficient procedure for genotyping single nucleotide polymorphisms [J]. NUCLEIC ACIDS RESEARCH, 2001, 29 (17) : 88 - 88

[1] A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene [J]. BONE, 2005, 36 (06) : 943 - 947

[2] Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (02) : 946 - 951

[3] A perfect message: RNA surveillance and nonsense-mediated decay [J]. CELL, 1999, 96 (03) : 307 - 310

[4] A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome [J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (12): : 1025 - 1032

[5] Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (05) : 453 - 461

[6] Kimberling W J, 1995, J Am Acad Audiol, V6, P63

[7] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population [J]. HUMAN GENETICS, 2005, 116 (04) : 292 - 299

[8] Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (05) : 463 - 471

[9] An efficient procedure for genotyping single nucleotide polymorphisms [J]. NUCLEIC ACIDS RESEARCH, 2001, 29 (17) : 88 - 88