ABCMdb

PMID: 9755815

Meschede D, Dworniczak B, Nieschlag E, Horst J
Genetic diseases of the seminal ducts.
Biomed Pharmacother. 1998;52(5):197-203., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* This is the case in homozygotes and compound heterozygotes for AF508 and other common "severe" mutations such as 17 171 G + A, G542X, G55lD, R553X, W1282X or Nl303K. Login to comment 40 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* This is the case in homozygotes and compound heterozygotes for AF508 and other common "severe" mutations such as 17 171 G + A, G542X, G55lD, R553X, W1282X or Nl303K. Login to comment 63 ABCC7 p.Arg117His AF.508 and R117H are the two most prevalent CFTR mutations among Caucasians with CBAVD. Login to comment 64 ABCC7 p.Arg117His ABCC7 p.Arg117His While AF508 is a "severe" mutation, R117H can be classified with the "mild" ones. Login to comment 65 ABCC7 p.Arg117His While AF508 is a "severe" mutation, R117H can be classified with the "mild" ones. Login to comment 71 ABCC7 p.Arg117His Along with AF508/R117H the AF508/T5 genotype is the most common one among CBAVD patients [6, 161. Login to comment 72 ABCC7 p.Arg117His Along with AF508/R117H the AF508/T5 genotype is the most common one among CBAVD patients [6, 161. Login to comment 91 ABCC7 p.Arg347Pro The seventh patient from this group is heterozygous for R347P, and it is likely that he harbors another mutation that went undetected. Login to comment 92 ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys Another group recently reported a single case of BED0 with compound heterozygosity for the CFTR mutations R347H and N1303K [18]. Login to comment 93 ABCC7 p.Arg347His ABCC7 p.Asn1303Lys Another group recently reported a single case of BED0 with compound heterozygosity for the CFTR mutations R347H and N1303K [18]. Login to comment