Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01216.x/fullpdf
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3. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts;Rapp;Eur J Pediatr,2001
4. Physical and linkage mapping of human carbamyl phosphate synthetase I and reassignment from 2p to 2q35;Summar;Cytogenet Cell Genet,1995
5. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset;Haberle;Hum Mutat,2003
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