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Genomics|December 1, 1991
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndromeE Boye, D Vetrie, F Flinter, et al.Nature|January 21, 1993
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinasesD Vetrie, I Vorechovský, P Sideras, et al.Human Genetics|March 1, 1987
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletionS V Hodgson, M E Robertson, C N Fear, et al.Nature Genetics|June 1, 1996
Characterization of DRP2, a novel human dystrophin homologueR G Roberts, T C Freeman, E Kendall, et al.American Journal of Obstetrics and Gynecology|November 1, 1983
Gonadotropins and gonadal steroids in androgen insensitivity (testicular feminization) syndrome: effects of castration and sex steroid administrationF Naftolin, P Pujol-Amat, C S Corker, et al.Genomics|January 1, 1994
A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22D Vetrie, E Kendall, A Coffey, et al.Journal of Medical Genetics|November 1, 1994
Deletions in the 5' region of dystrophin and resulting phenotypesF Muntoni, P Gobbi, C Sewry, et al.Journal of Medical Genetics|January 1, 1997
Clinical, cytogenetic, and molecular analysis of three families with FRAXEA J Barnicoat, Q Wang, J Turk, et al.Human Molecular Genetics|April 1, 1995
Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA)H Jin, A D Webster, M Vihinen, et al.Journal of Medical Genetics|June 1, 1993
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British IslesE C Landels, P M Green, I H Ellis, et al.Pageof 861