Concepedia

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

Marie Claire Vincent, Valérie Biancalana, Danièle Ginisty, Jean‐Louis Mandel, Patrick Calvas

European Journal of Human Genetics · 2001 · 105 citations · 19 references

DOI

Concepts

References

19

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

, , +14

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

, , +17

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

Bruce Budowle, Ranajit Chakraborty, A M Giusti et al. · PubMed · 1991 · 920 citations

, , +4

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

, , +13

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Alex W. Monreal, Betsy Ferguson, Denis J. Headon et al. · Nature Genetics · 1999 · 406 citations

, , +12