PMID: 15238778

Ockenga J
The puzzle of genes and environmental risk factors for disease susceptibility: putting the pieces together.
AIDS. 2004 Jul 23;18(11):1591-3., 2004-07-23 [PubMed]
Sentences
No. Mutations Sentence Comment
11 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15238778:11:215
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15238778:11:176
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15238778:11:169
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15238778:11:184
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15238778:11:162
status: NEW
view ABCC7 p.Gly542* details
 Approximately 72% of cystic fibrosis patients are homozygous or compound heterozygous for eight mutations of the CFTR regulator gene on chromosome 7: delta F508, G542X, R553X, W1282X, N1303K, 621 + 1G!T, 1717-1G!A, R117H [3]; whereas the deletion delta F508 alone accounts for approximately 66% of mutant cystic fibrosis alleles. Login to comment