Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family

Gene

Volumn 557, Issue 1, 2015, Pages 103-105

  Abbasi, Farzaneh ^a   Azizi, Faezeh ^b   Javaheri, Mona ^b   Mosallanejad, Asieh ^c   Ebrahim Habibi, Azadeh ^d   Ghafouri Fard, Soudeh ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Fanconi Bickel syndrome; GLUT2; Novel mutation

Indexed keywords

6 NUCLEOTIDE; ALKALINE PHOSPHATASE; AMINO ACID; CALCIUM; CHOLESTEROL; GENOMIC DNA; GLUCOSE TRANSPORTER 1; GLUCOSE TRANSPORTER 2; GLYCOGEN; NUCLEOTIDE; PHOSPHORUS; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; SLC2A2 PROTEIN, HUMAN;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE PAIN; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; DEVELOPMENTAL DISORDER; DISEASE DURATION; FAILURE TO THRIVE; FANCONI BICKEL SYNDROME; FEMALE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GLUCOSURIA; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; HYPERURICOSURIA; HYPOPHOSPHATEMIC RICKETS; INFANT; IRANIAN PEOPLE; KIDNEY HYPERTROPHY; LIVER BIOPSY; MALE; METABOLIC ACIDOSIS; MOLECULAR EVOLUTION; PHOSPHATE BLOOD LEVEL; PROTEIN STRUCTURE; PROTEINURIA; RARE DISEASE; RICKETS; SCHOOL CHILD; TRIACYLGLYCEROL BLOOD LEVEL; URINALYSIS; WALKING DIFFICULTY; DNA SEQUENCE; FANCONI RENOTUBULAR SYNDROME; GENETICS; HOMOZYGOTE; IRAN; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; CHILD; FANCONI SYNDROME; FEMALE; GLUCOSE TRANSPORTER TYPE 2; HOMOZYGOTE; HUMANS; INFANT; IRAN; MALE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84920157959     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.12.024     Document Type: Article

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