Literature DB >> 7474910

Prenatal diagnosis of Menkes disease by mutation analysis.

S Das1, S Whitney, J Taylor, E Chen, B Levinson, C Vulpe, J Gitschier, S Packman.   

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Year:  1995        PMID： 7474910     DOI： 10.1007/bf00710435

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

Authors:  J Chelly; Z Tümer; T Tønnesen; A Petterson; Y Ishikawa-Brush; N Tommerup; N Horn; A P Monaco
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

2.  Diverse mutations in patients with Menkes disease often lead to exon skipping.

Authors:  S Das; B Levinson; S Whitney; C Vulpe; S Packman; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

3.  Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.

Authors:  C Vulpe; B Levinson; S Whitney; S Packman; J Gitschier
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

4.  Isolation of a partial candidate gene for Menkes disease by positional cloning.

Authors:  J F Mercer; J Livingston; B Hall; J A Paynter; C Begy; S Chandrasekharappa; P Lockhart; A Grimes; M Bhave; D Siemieniak
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

5.  First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Authors:  Z Tümer; T Tønnesen; J Böhmann; W Marg; N Horn
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318
  5 in total
  2 in total

Review 1.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Authors:  Binbin Cao; Xiaoping Yang; Yinyin Chen; Qionghui Huang; Ye Wu; Qiang Gu; Jiangxi Xiao; Huixia Yang; Hong Pan; Junya Chen; Yu Sun; Li Ren; Chengfeng Zhao; Yanhua Deng; Yanling Yang; Xingzhi Chang; Zhixian Yang; Yuehua Zhang; Zhengping Niu; Juli Wang; Xiru Wu; Jingmin Wang; Yuwu Jiang
Journal:  Metab Brain Dis       Date:  2017-04-10       Impact factor: 3.584
  2 in total

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