Concepedia

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

Mariem Ben Rekaya, Olfa Messaoud, Faten Talmoudi, Sonia Nouira, Houyem Ouragini, Ahlem Amouri, Hamouda Boussen, S Boubaker, M. Mokni, I. Mokthar,

Journal of Human Genetics · 2009 · 55 citations · 20 references

DOI

Concepts

References

20

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

, , +8

Xeroderma Pigmentosum Group C Protein Complex Is the Initiator of Global Genome Nucleotide Excision Repair

Kaoru Sugasawa, Jessica M.Y. Ng, Chikahide Masutani et al. · Molecular Cell · 1998 · 888 citations · Full text

, , +12

Centrosome Protein Centrin 2/Caltractin 1 Is Part of the Xeroderma Pigmentosum Group C Complex That Initiates Global Genome Nucleotide Excision Repair

Marito Araki, Chikahide Masutani, Mitsuyo Takemura et al. · Journal of Biological Chemistry · 2001 · 329 citations · Full text

, , +15

Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes.

Jaap Venema, Anneke van Hoffen, V. Karcagi et al. · Molecular and Cellular Biology · 1991 · 313 citations · Full text

, , +16

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Caroline Lefèvre · Human Molecular Genetics · 2003 · 292 citations · Full text

, , +17