Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

European Journal of Pediatrics

Volumn 168, Issue 12, 2009, Pages 1467-1471

  Faiyaz Ul Haque, Muhammad ^a,b   Al Owain, Mohammed ^a   Al Dayel, Fouad ^a   Al Hassnan, Zuhair ^a   Al Zaidan, Hamad ^a   Rahbeeni, Zuhair ^a   Al Sayed, Moeen ^a   Balobaid, Ameera ^a   Cluntun, Ahmad ^a   Toulimat, Mohamed ^a   Abalkhail, Hala ^a   Peltekova, Iskra ^c   Zaidi, Syed H E ^d  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c QUEEN S UNIVERSITY   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

Autosomal recessive; FBP1 gene; Fructose 1,6 bisphosphatase deficiency; Insertion mutation; Nonsense mutation

Indexed keywords

AMINO ACID; FRUCTOSE BISPHOSPHATASE;

AMINO TERMINAL SEQUENCE; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINITY; DNA SEQUENCE; FEMALE; FRUCTOSE BISPHOSPHATASE DEFICIENCY; GENE MUTATION; GLUCONEOGENESIS; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

ADULT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY; HUMANS; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE;

EID: 70449522306     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-0953-9     Document Type: Article

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