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X连锁鱼鳞病的脐带血遗传学诊断 被引量:1

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出处 《中华围产医学杂志》 CAS 2000年第2期101-102,共2页 Chinese Journal of Perinatal Medicine
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  • 2BenKhelifa H,Soyah N,Ben-Abdallah-Bouhjar I,et al. Xp22.3interstitial deletion :a recognizable chromosomal abnormalityencompassing VCX3A and STS genes in a patient with X~linkedichthyosis and mental retardation[J].Gene,2013,527 (2) :578-83.doi :10.1016/j.gene.2013.06.018. Epub 2013 Jun 18. PubMedPMID :23791652.
  • 3Cuevas-CovarrubiasSA,Jim6nez-Vaca AL, Gonz61ez—HuertaLM, et al. Somatic and germinal mosaicism for the steroid sulfatasegene deletion in a steroid sulfatase deficiency carrier[J]. J InvestDermatol,2002,119 (4) .-972-5. doi :10.1046/j.l523-l747.2002.t01-l-00185.x Pub Med PMID :12406347.
  • 4Gonz61ez-HuertaLM, Riviera-Vega MR. Kofman-Alfeuro SH. etal. Novel missense mutation (Arg432Cys) in a patient with steroidsulphatase-deficiency[J]. Clin Endocrinol (Oxf),2003, 59 (2):263-4. doi :10.1046/j.l365-2265.2003.17851.x PubMed PMID :12864806.
  • 5JimenezVaca AL, Valdes-Flores Mdel R,Rivera-Vega MR,etal. Deletion pattern of the STS gene in X-linked ichthyosis in aMexican population[J]. Mol Med, 2001,7 (12) :845-9. PubMedPMID :11844872 ;PubMed Central PMCID :PMC1950010.
  • 6Lesca G, Sinilnikova O, Theuil G, et al. Xp22.3 microdeletionincluding VCX-A and VCX-B1 genes in an X-linked ichthyosisfamily :no difference in deletion size for patients with and withoutmental retardation[J].Clin Genet,2005,67 (4) :367-8. doi :10.1111/j.l399- 0004.2005.00417.x Pub Med PMID :15733277.
  • 7Shaffer LG, Coppinger J,Morton SA, et al. The developmentof a rapid assay for prenatal testing of common aneuploidiesand microdeletion syndromes[J].Prenat Diagn,2011,31 (8):778-87. doi :10.1002/pd.2766. Epub 2011 Jun 21.PubMed PMID :21692086.
  • 8VialardF, Simoni G, Aboura A, et al. Prenatal BACs-on-Beads . :a new technology for rapid detection of aneuploidies andmicrodeletions in prenatal diagnosis[J].Prenat Diagn, 2011,31 (5):500-8. doi :10.1002/pd.2727. Epub 2011 Mar 14. PubMed PMID :21404304.
  • 9PreumontA, Rzem R, Vertommen D, et al.HDHDl, which isoften deleted in X-linked ichthyosis, encodes a pseudouridine-5phosphatase [J]. Biochem J, 2010 Oct, 15 ;431 (2) :237-44. doi :10.1042/BJ20100174. PubMed PMID :20722631.

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