Locus homogeneity for cartilage-hair hypoplasia proven?
作者信息
Krawczak M
出版信息
Hum Genet. 1995 Sep;96(3):371-2. doi: 10.1007/BF00210429.
PMID:7649562
Abstract
摘要
相似文献
1
Locus homogeneity for cartilage-hair hypoplasia proven?软骨毛发发育不全的基因座同质性已得到证实？
Hum Genet. 1995 Sep;96(3):371-2. doi: 10.1007/BF00210429.
2
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.通过连锁分析将软骨毛发发育不全基因定位于9号染色体。
Nat Genet. 1993 Apr;3(4):338-41. doi: 10.1038/ng0493-338.
3
Cartilage-hair hypoplasia.软骨毛发发育不全
J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39.
4
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.阿米什和芬兰家族中软骨毛发发育不全（CHH）基因的高分辨率遗传定位
Genomics. 1994 Apr;20(3):347-53. doi: 10.1006/geno.1994.1187.
5
Genetic homogeneity of cartilage-hair hypoplasia.软骨毛发发育不全的基因同质性
Hum Genet. 1995 Feb;95(2):157-60. doi: 10.1007/BF00209394.
6
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.
Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225.
7
[Metaphyseal dysostosis and hypoplasia of hair: cartilage-hair-hypoplasia. Contribution on statistical coverage of hair morphology].
Helv Paediatr Acta. 1972 Jul;27(3):241-51.
8
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.芬兰人群中发现的RMRP基因c.70 A>G位点的奠基者突变，在一个巴基斯坦家庭中导致了软骨毛发发育不全。
Clin Dysmorphol. 2017 Apr;26(2):121-123. doi: 10.1097/MCD.0000000000000155.
9
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.鱼鳞癣-早熟综合征基因座定位于9号染色体q33.3-34.13。
J Med Genet. 2004 Mar;41(3):208-12. doi: 10.1136/jmg.2003.012567.
10
Uniparental disomy in cartilage-hair hypoplasia.软骨毛发发育不全中的单亲二体性。
Eur J Hum Genet. 1997 Jan-Feb;5(1):35-42.
本文引用的文献
1
Genetic homogeneity of cartilage-hair hypoplasia.软骨毛发发育不全的基因同质性
Hum Genet. 1995 Feb;95(2):157-60. doi: 10.1007/BF00209394.
Zotero 插件