TY  - GEN
AU  - Al-Sayed,M
AU  - Alahmed,S
AU  - Alsmadi,O
AU  - Khalil,H
AU  - Rashed,M S
AU  - Imtiaz,F
AU  - Meyer,B F
TI  - Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
SN  - 0141-8955
PY  - 2006///0705
KW  - Alleles
KW  - Amino Acid Metabolism, Inborn Errors
KW  - genetics
KW  - Argininosuccinate Lyase
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genome
KW  - Genotype
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mass Spectrometry
KW  - Mutation
KW  - Neonatal Screening
KW  - Phenotype
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Saudi Arabia
KW  - Sequence Analysis, DNA
KW  - Spectrometry, Mass, Electrospray Ionization
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10545-005-0081-2
ER  -