A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

Human Genetics

Volumn 105, Issue 3, 1999, Pages 240-243

  Burwinkel, Barbara ^a   Sanjad, Sami A ^b,c   Al Sabban, Essam ^b   Al Abbad, Abbas ^b   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

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

^c AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER; PHOSPHORYLASE KINASE;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SUBUNIT; FAMILY STUDY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GLYCOGEN STORAGE DISEASE; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FANCONI SYNDROME; FEMALE; GLUCOSE TRANSPORTER TYPE 2; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISOENZYMES; KIDNEY DISEASES; LIVER DISEASES; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PHOSPHORYLASE KINASE; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032824796     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051095     Document Type: Article

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