ABCC7 p.Leu1258*

[switch to full view]
Comments [show]
Publications
PMID: 10777364 [PubMed] Wang J et al: "A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients."
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
Login to comment

PMID: 10777368 [PubMed] Rivard SR et al: "Correlation between mutations and age in cystic fibrosis in a French Canadian population."
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
Login to comment