ABCC7 p.Gln98His
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PMID: 10834512
[PubMed]
Kambouris M et al: "Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations."
No.
Sentence
Comment
108
aa amino acids CFTR position Mutation DNA Consequence Number of families Number and percentage of alleles Exon 3 355C ® T R75X ± protein truncation 1a [1548delG] 1 (private mutation) Exon 4 425del42 Q98H and deletion of the following 14 aa 1a [?]
X
ABCC7 p.Gln98His 10834512:108:209
status: NEW