ABCC7 p.Tyr852Ala
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PMID: 19181743
[PubMed]
Sharma N et al: "Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens."
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132
In CBAVD patients, a high frequency of compound heterozygosity with severe/mild or mild/mild mutations has been reported Figure 1 Multiple alignments of CFTR amino acid sequences from different species (human, rhesus monkey, bovine, sheep, pig and mouse) and seven novel substitution mutations (L69H, F87I, G126S, F157C, E543A, Y852A and D1270E) identified in Indian CAVD patients.
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ABCC7 p.Tyr852Ala 19181743:132:328
status: NEW