ABCC7 p.Leu1258*
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] A novel mutation in the CFTR gene correlates with ... J Med Genet. 2000 Mar;37(3):215-8. Wang J, Bowman MC, Hsu E, Wertz K, Wong LJ
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.
J Med Genet. 2000 Mar;37(3):215-8., [PMID:10777364]
Abstract [show]
Comments [show]
None has been submitted yet.
No. Sentence Comment
290 The deleterious frameshift mutation, 3876delA (L1258X), was detected in six out of 29 unrelated Hispanic CF patients attending the CHLA CF clinic.
X
ABCC7 p.Leu1258* 10777364:290:47
status: NEW[hide] Correlation between mutations and age in cystic fi... J Med Genet. 2000 Mar;37(3):225-7. Rivard SR, Allard C, Leblanc JP, Milot M, Aubin G, Simard F, Ferec C, de Braekeleer M
Correlation between mutations and age in cystic fibrosis in a French Canadian population.
J Med Genet. 2000 Mar;37(3):225-7., [PMID:10777368]
Abstract [show]
Comments [show]
None has been submitted yet.
No. Sentence Comment
290 The deleterious frameshift mutation, 3876delA (L1258X), was detected in six out of 29 unrelated Hispanic CF patients attending the CHLA CF clinic.
X
ABCC7 p.Leu1258* 10777368:290:47
status: NEW