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Year | Number of Results |
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1987 | 1 |
1991 | 1 |
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2013 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 1417
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Page 1
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.
Hum Genet. 2013.
PMID: 23508780
Free PMC article.
Clinical Trial.
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF.
Riazuddin SA, et al.
Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. doi: 10.1167/iovs.04-1481.
Invest Ophthalmol Vis Sci. 2005.
PMID: 15914629
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A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, Zhang T, Gao Y, Qu L, Li D, Li Y.
Qi Y, et al.
Hum Genet. 2004 Jan;114(2):192-7. doi: 10.1007/s00439-003-1049-7. Epub 2003 Nov 4.
Hum Genet. 2004.
PMID: 14598164
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Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL.
Lampi KJ, et al.
J Biol Chem. 1997 Jan 24;272(4):2268-75. doi: 10.1074/jbc.272.4.2268.
J Biol Chem. 1997.
PMID: 8999933
Free article.
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The beta crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5.
Hulsebos TJ, Jenkins NA, Gilbert DJ, Copeland NG.
Hulsebos TJ, et al.
Genomics. 1995 Jan 20;25(2):574-6. doi: 10.1016/0888-7543(95)80062-q.
Genomics. 1995.
PMID: 7789995
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Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster.
Aarts HJ, Den Dunnen JT, Lubsen NH, Schoenmakers JG.
Aarts HJ, et al.
Gene. 1987;59(1):127-35. doi: 10.1016/0378-1119(87)90273-3.
Gene. 1987.
PMID: 3436525
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Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2.
Hulsebos TJ, Bijlsma EK, Geurts van Kessel AH, Brakenhoff RH, Westerveld A.
Hulsebos TJ, et al.
Cytogenet Cell Genet. 1991;56(3-4):171-5. doi: 10.1159/000133080.
Cytogenet Cell Genet. 1991.
PMID: 2055112
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