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Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect genotype diagnosis) agree well with those based on the arysulfatase C/beta-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic counseling.
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
March 1982,
Clinica chimica acta; international journal of clinical chemistry,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
April 1992,
Zhonghua yi xue za zhi,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
January 1981,
International journal of dermatology,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
August 2014,
Indian pediatrics,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
November 1993,
JAMA,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
July 1977,
The British journal of dermatology,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
January 2005,
Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
December 1987,
Human genetics,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
November 2016,
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics,
F H Herrmann, and
B Wirth, and
K Wulff, and
J Hadlich, and
M Voss, and
E F Gillard, and
T A Kruse, and
M A Ferguson-Smith, and
A Gal
December 2005,
Dermatology online journal,
