Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
Sahota
A
A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202.
Chen
J
J
Bye
S
S
Jaing
J
J
Berenyi
M
M
Fekete
G
G
Tischfield
J A
JA
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
D003062:Codon; D000228:Adenine Phosphoribosyltransferase; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases