PMID: 9797105

Jarvi K, McCallum S, Zielenski J, Durie P, Tullis E, Wilchanski M, Margolis M, Asch M, Ginzburg B, Martin S, Buckspan MB, Tsui LC
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.
Fertil Steril. 1998 Oct;70(4):724-8., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9797105:60:62
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9797105:60:191
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9797105:60:260
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9797105:60:275
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 9797105:60:293
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9797105:60:79
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9797105:60:117
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9797105:60:239
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9797105:60:252
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 9797105:60:213
status: NEW
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ABCC7 p.Gly551Ala
X
ABCC7 p.Gly551Ala 9797105:60:267
status: NEW
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 of men Single mutation 5T /Unknown 13 ⌬F508 /Unknown 8 R117H /Unknown 2 W1282X /Unknown 1 4016insT /Unknown 1 N1303K /Unknown 1 Total 26 Two mutations ⌬F508 /5T 4 ⌬F508 /R117H 2 ⌬F508 /R75Q 1 5T /2183AA3G 1 5T /N1303K 1 5T /G542X 1 R117H /G551A 1 R117H /2184insA 1 A455E /3849ϩ10KbC 1 3T Total 13 No mutations 7 Total no. Login to comment