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Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
Hum Mutat. 1998;11(6):443-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S.
Hum Mutat. 1998.
PMID: 9603436
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L.
Krug P, et al.
Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.
Hum Mutat. 2011.
PMID: 21280147
Free article.
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Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ.
Kumar S, et al.
Genet Test. 1997-1998;1(4):243-51. doi: 10.1089/gte.1997.1.243.
Genet Test. 1997.
PMID: 10464653
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Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ.
Orten DJ, et al.
Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.
Hum Mutat. 2008.
PMID: 18220287
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