Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
作者信息
Hart P S, Becerik S, Cogulu D, Emingil G, Ozdemir-Ozenen D, Han S T, Sulima P P, Firatli E, Hart T C
出版信息
Clin Genet. 2009 Apr;75(4):401-4. doi: 10.1111/j.1399-0004.2008.01112.x. Epub 2009 Feb 11.
Abstract
摘要
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Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.患有常染色体显性低钙化型牙釉质发育不全的土耳其家庭中的新型FAM83H基因突变。
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FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.常染色体显性低钙化型牙釉质发育不全家族中的FAM83H基因突变。
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本文引用的文献
1
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.FAM83H 的突变谱：C 端部分对于牙釉质钙化是必需的。
Hum Mutat. 2008 Aug;29(8):E95-9. doi: 10.1002/humu.20789.
2
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.胶原蛋白X信使核糖核酸的无义介导减少的能力由3'非翻译区决定，并且与施密德干骺端软骨发育不良中的突变位置相对应。
Am J Hum Genet. 2008 Mar;82(3):786-93. doi: 10.1016/j.ajhg.2008.01.006. Epub 2008 Feb 21.
3
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.常染色体显性低钙化型牙釉质发育不全家族中的FAM83H基因突变。
Am J Hum Genet. 2008 Feb;82(2):489-94. doi: 10.1016/j.ajhg.2007.09.020.
4
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.低成熟型釉质发育不全中的基质金属蛋白酶20活性位点突变
J Dent Res. 2005 Nov;84(11):1031-5. doi: 10.1177/154405910508401112.
5
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.常染色体隐性色素沉着性牙釉质发育不全中的基质金属蛋白酶-20突变
J Med Genet. 2005 Mar;42(3):271-5. doi: 10.1136/jmg.2004.024505.
6
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.激肽释放酶4突变导致常染色体隐性遗传性低成熟型牙釉质发育不全。
J Med Genet. 2004 Jul;41(7):545-9. doi: 10.1136/jmg.2003.017657.
7
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.X连锁型牙釉质发育不全中表型与基因型的关系。
Connect Tissue Res. 2003;44 Suppl 1:72-8.
8
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.在一个新家族中鉴定釉原蛋白（g.8344delG）突变并提出标准化的ENAM命名法。
Arch Oral Biol. 2003 Aug;48(8):589-96. doi: 10.1016/s0003-9969(03)00114-6.
9
The enamel proteins in human amelogenesis imperfecta.人类牙釉质发育不全中的釉质蛋白。
Arch Oral Biol. 1997 Feb;42(2):149-59. doi: 10.1016/s0003-9969(96)00096-9.
10
Changes in the protein components of rat incisor enamel during tooth development.
Arch Oral Biol. 1983;28(11):993-1000. doi: 10.1016/0003-9969(83)90053-5.
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