ABCC7 p.Leu1258*
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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
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