Genetics of Menkes Disease

J Gordon Millichap

doi:10.15844/pedneurbriefs-8-11-12

Genetics of Menkes Disease

Pediatric Neurology Briefs

Volume 8 (1994): Issue 11

By: J Gordon Millichap

Open Access

|Nov 1994

Abstract

Fibroblast cultures from 12 unrelated patients with classical Menkes disease, an X-linked disorder of copper metabolism, were analyzed for mutations in the MNK gene at the Howard Hughes Medical Institute, University of California, San Francisco.

References

Das S Levinson B Whitney S Vulpe C Packman S Gitschier J Diverse mutations in patients with Menkes disease often lead to exon skipping Am J Hum Genet 1994 Nov 55 5 883 9 7977350
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-8-11-12 | Journal eISSN: 2166-6482

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Language: English

Page range: 88 - 88

Published on: Nov 1, 1994

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

X-Linked Disorder,

Reverse Transcription-PCR,

Identify Mutations

© 1994 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 8 (1994): Issue 11