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Carrier detection and prenatal diagnosis in Norrie disease
Author(s) -
Curtis Diana,
Blank C. E.,
Parsons M. A.,
Hughes Howard N.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970091009
Subject(s) - prenatal diagnosis , disease , medicine , pregnancy , obstetrics , genetics , fetus , pathology , biology
We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.
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