Prenatal diagnosis of Menkes disease by mutation analysis

Journal of Inherited Metabolic Disease - Tập 18 Số 3 - Trang 364-365 - 1995
Soma Das1, Susan Whitney1, Jessica Averitt Taylor2, E. Chen1,2, Barbara Levinson3,4, Chris D. Vulpe5, Jane Gitschier1,4, Seymour Packman1
1Division of Genetics, Department of Pediatrics, University of California, Campus Box 0748, Third and Parnassus Avenues, San Francisco, CA, 94143-0748 USA
2Division of Medical Genetics, Children's Hospital Medical Center, Oakland, California, USA
3Department of Medicine, University of California, San Francisco, USA
4Howard Hughes Medical Institute, University of California, San Francisco, USA
5Dept. of Biochemistry and Biophysics, University of California, San Francisco, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

10.1038/ng0193-14

Das S, 1994, Diverse mutations in patients with Menkes disease often lead to exon skipping, Am J Hum Genet, 55, 883

10.1038/ng0193-20

10.1136/jmg.31.8.615

10.1038/ng0193-7

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Journal of Inherited Metabolic Disease

Tập 18 Số 3

364-365

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