Concepedia

Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion

Teck Wah Ting, Maggie Brett, Ei-Leen Tan, Yiping Shen, S.P. Lee, Eileen C.P. Lim, Rashida Farhad Vasanwala, Ngee Lek, Terrence Thomas, Koini Lim,

Gene · 2015 · 10 citations · 8 references

DOI

Concepts

References

8

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

Karla A. Henning, Lei Li, Narayan V. Iyer et al. · Cell · 1995 · 505 citations · Full text

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Dwarfism with retinal atrophy and deafness

E. A. Cockayne · Archives of Disease in Childhood · 1936 · 373 citations · Full text

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Three novel mutations responsible for Cockayne syndrome group A.

Yan Ren, Masafumi Saijo, Yoshimichi Nakatsu et al. · Genes & Genetic Systems · 2003 · 39 citations · Full text

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Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

Rolf J. R. J. Janssen, Felix Distelmaier, Roel Smeets et al. · Human Molecular Genetics · 2009 · 35 citations · Full text

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Predicted Structures of Two Proteins Involved in Human Diseases

Huan‐Xiang Zhou, Guoli Wang · Cell Biochemistry and Biophysics · 2001 · 23 citations

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