关键词: A AA ALP ALT ASS ASS1 AST BWA Burrows Wheeler Aligner C CTLN CTLN1 CTLN2 E FAH FTTDCD G GC/MS GGT Glu HBV HCV HIV K Lys NGS NICCD Next generation sequencing Novel mutation PCR PLA PPA PSTI SLC25A13 SNP T Target sequence capture Type II citrullinaemia adenosine adult-onset type II citrullinaemia alanine transaminase alkaline phosphatase amino acid(s) argininosuccinate synthetase 1 aspartate aminotransferase base pair(s) bp citrullinaemia cytidine failure to thrive and dyslipidaemia caused by citrin deficiency gDNA gamma glutamyltransferase gas chromatography mass spectrometry gene encoding argininosuccinate synthase 1 gene encoding citrin gene encoding fumarylacetoacetate hydrolase genomic DNA glutamic acid guanosine hepatitis B virus hepatitis C virus human immunodeficiency virus lysine neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency next-generation sequencing nt nucleotide(s) pancreatic secretory protease inhibitor phenylacetic acid phenylpyruvic acid polymerase chain reaction single-nucleotide polymorphism thymidine type I citrullinaemia
Mesh : Amino Acid Sequence Asians / genetics Base Sequence Calcium-Binding Proteins / deficiency Case-Control Studies Citrullinemia / genetics DNA Mutational Analysis / methods Female High-Throughput Nucleotide Sequencing / methods Humans Infant Mitochondrial Membrane Transport Proteins / genetics Molecular Sequence Data Mutation, Missense Organic Anion Transporters / deficiency
来 源: DOI:10.1016/j.gene.2013.10.021