ABCMdb

ABCC7 p.Ser531Pro

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Publications

PMID: 20059346 [PubMed] Whitcomb DC et al: "Genetic aspects of pancreatitis."

No. Sentence Comment

154 Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56). Login to comment
313 The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P. Login to comment
155 Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56). Login to comment
314 The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P. Login to comment

PMID: 18463004 [PubMed] Laguna TA et al: "The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P."

No. Sentence Comment

12 We present a case of a Mexican girl with clinical features of CF and the novel genotype S531P/S531P. Login to comment
25 CFTR gene analysis (Ambry Genetics®) revealed the homozygous presence of a previously undescribed mutation, S531P on exon 11, on a background of the poly T genotype 7T/ 7T. Gross gene deletion(s)/duplication(s) testing was negative. Login to comment
58 S531P mutation To determine the frequency of this mutation in a Hispanic population from the same community, we examined 42 Hispanic patients (84 alleles) from our CF clinic who underwent full CFTR gene sequencing. Login to comment
59 None of these carried the S531P mutation. Login to comment
66 We present a patient with the novel genotype S531P/S531P. Login to comment
84 Conclusion We found the homozygous presence of a previously undescribed mutation, S531P, in this Mexican patient with severe clinical manifestations of CF. Login to comment
85 Based on her clinical course, we believe S531P is a disease-causing mutation and should be examined in other Hispanics with CF and no previously detected CFTR mutations. Login to comment
60 None of these carried the S531P mutation. Login to comment
67 We present a patient with the novel genotype S531P/S531P. Login to comment