A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels

Clinical Biochemistry

Volumn 42, Issue 16-17, 2009, Pages 1725-1727

  Al Saud, B ^a   Alsmadi, O ^a   Al Muhsen, S ^a,b   Al Ghonaium, A ^a   Al Dhekri, H ^a   Arnaout, R ^a   Hershfield, M S ^c   Al Mousa, H ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Developmental delay; Novel mutation; NP gene; Primary immunodeficiency; Uric acid

Indexed keywords

PROLINE; PURINE NUCLEOSIDE PHOSPHORYLASE; SERINE; URIC ACID;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DNA DETERMINATION; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; RECURRENT INFECTION; SEQUENCE ANALYSIS; URIC ACID BLOOD LEVEL;

CHILD, PRESCHOOL; HUMANS; MALE; MUTATION; PURINE-NUCLEOSIDE PHOSPHORYLASE; URIC ACID;

EID: 70349785032     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.08.017     Document Type: Article

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