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Prenatal diagnosis of ornithine transcarbamylase deficiency

✍ Scribed by Allen E. Bale


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
54 KB
Volume
19
Category
Article
ISSN
0197-3851

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✍ Bowling, Francis; McGown, Ivan; McGill, James; Cowley, David; Tuchman, Mendel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 13 KB πŸ‘ 2 views

Ornithine transcarbamylase (OTC) deficiency (McKusick 311250), an X-linked inherited disorder, often presents in males with severe neonatal onset of hyperammonemia. Maternal gonadal mosaicism in OTC deficiency was postulated previously, but no cases have been reported. We report on a family in which

Prenatal diagnosis of JAK3 deficient SCI
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The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokine receptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all