ABCMdb

PMID: 11157821

McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.
Hum Reprod. 2001 Feb;16(2):282-8., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Arg1162* ABCC7 p.Arg1283Met Since males afflicted with clinical 282 (c) European Society of Human Reproduction and Embryology R1283M; 4006-61del14; IVS-5T; 2183AA→F; R1162X. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Therereflects the 26 mutation/5T allele polymorphism assessment at the was no history of maternal diabetes, obvious teratogen exposurepresent time at Boston University Center for Human Genetics: or evidence of known congenital syndromes in themselves, orR117H; 1717-1G→A; G542X; 621ϩ1; S549N; R560T; I507; G551D; their families, that the men in either group could recall. Login to comment 61 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Ser549Arg ABCC7 p.Arg117Leu ABCC7 p.Ser549Ile ABCC7 p.Arg560Lys ABCC7 p.Arg1283Lys ABCC7 p.Arg553Gly ThereW1282X; ∆F508; R553X; N1303K; 3849ϩ10 kb C-T; R117L; I506; R553G; R560K; 1811ϩ1G-C; 1774delCT; S549R; S549I; R1283K; were no significant correlations with ethnic origin. Login to comment