PMID: 25630966

Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R, Barben J, Southern KW
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening.
J Cyst Fibros. 2015 Nov;14(6):706-13. doi: 10.1016/j.jcf.2015.01.001. Epub 2015 Jan 24., [PubMed]
Sentences
No. Mutations Sentence Comment
222 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 25630966:222:159
status: NEW
view ABCC7 p.Arg117His details
 [8] Scotet V, Audrezet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, et al. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Login to comment 224 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 25630966:224:128
status: NEW
view ABCC7 p.Arg117His details
 [9] Thauvin-Robinet C, Munck A, Huet F, Genin E, Bellis G, Gautier E, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009;46(11):752-8. Login to comment 226 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 25630966:226:53
status: NEW
view ABCC7 p.Arg117His details
 Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7 T polythymidine tract at intron 8. Login to comment