PMID: 12032730

Moutou C, Gardes N, Viville S
Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis.
Eur J Hum Genet. 2002 Apr;10(4):231-8., [PubMed]
Sentences
No. Mutations Sentence Comment
10 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12032730:10:57
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12032730:10:82
status: NEW
view ABCC7 p.Arg1066Cys details
 Case one was at risk of transmitting mutations DF508 and R1162X, case 2 DF508 and R1066C and case 3 DF508 and 1341+1A. Login to comment 53 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12032730:53:87
status: NEW
view ABCC7 p.Arg1162* details
 This foetus was a compound heterozygote for mutations DF508 (paternally inherited) and R1162X (maternally inherited). Login to comment 55 ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12032730:55:78
status: NEW
view ABCC7 p.Arg1066Cys details
 She is a compound heterozygote for mutations DF508 (maternally inherited) and R1066C (paternally inherited). Login to comment