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Human aldolase B cDNA detects a Pvu II RELP in healthy indiviuals
Author(s) -
Giovanni Paolella,
Rita Santamaria,
Pasqualina Buono,
Francesco Salvatore
Publication year - 1986
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/14.13.5568
Subject(s) - aldolase a , biology , complementary dna , genetics , gene , biochemistry , enzyme
CODING SEQUENCE: Human aldolase B gene (ALDOB). The gene is a single copy and its chromosomal location is 9q21.3-q32 MENDELIAN INHERITANCE: Demonstrated in one family. The mother and the son are heterozygotes, whereas the father is a homozygote. OTHER COMMENTS: Hereditary fructose intolerance is due to a lack of aldolase B activity in liver. Although we observed no 2.3 kb homozygotes, no sign of partial digestion was seen In heterozygote individuals.

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