PMID: 23768522

Chiang HS, Lin YH, Wu YN, Wu CC, Liu MC, Lin CM
Advantages of magnetic resonance imaging (MRI) of the seminal vesicles and intra-abdominal vas deferens in patients with congenital absence of the vas deferens.
Urology. 2013 Aug;82(2):345-51. doi: 10.1016/j.urology.2013.03.038. Epub 2013 Jun 13., [PubMed]
Sentences
No. Mutations Sentence Comment
94 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 23768522:94:233
status: NEW
view ABCC7 p.Arg117His details
 We previously reported genetic analyses of CFTR gene mutations in our collected cases of CBAVD.16,17 As Taiwan is an area with very low incidence of CF, none of the patients with CBAVD had major CFTR gene mutations, such as DF508 or R117H, except for IVS8-5T with the presence of (TG)12/13. Login to comment