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Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion
Author(s) -
Legius E.,
Baten E.,
Stul M.,
Marynen P.,
Cassiman J.J.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03565.x
Subject(s) - ornithine transcarbamylase deficiency , ornithine transcarbamylase , ornithine carbamoyltransferase , somatic cell , genetics , biology , gene , ornithine , urea cycle , arginine , amino acid
Somatic mosaicism for a deletion in the ornithine transcarbamylase gene is described in a boy with sporadic late onset ornithine transcarbamylase deficiency. These findings are discussed in relation to the clinical picture of the patient and in relation to genetic counseling.