PMID: 19014821

Soultan ZN, Foster MM, Newman NB, Anbar RD
Sweat chloride testing in infants identified as heterozygote carriers by newborn screening.
J Pediatr. 2008 Dec;153(6):857-9., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 19014821:54:154
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19014821:54:238
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 19014821:54:322
status: NEW
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ABCC7 p.Pro750Leu
X
ABCC7 p.Pro750Leu 19014821:54:362
status: NEW
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ABCC7 p.Arg352Trp
X
ABCC7 p.Arg352Trp 19014821:54:355
status: NEW
view ABCC7 p.Arg352Trp details
 Sweat [Cl- ] and the results of genetic screening of 11 patients with [Cl- ] > 24 mmol/L Patients Sweat [Cl- ] mmol/L Mutations Poly T-TG Repeats 1 89 91 R347P CFTRdel 17a-18 7T/9T 2 85 82 ⌬F508 2622ϩ1 GϾT 9T/9T 3 71 - G542X Y1014del 7T/9T 4 69 65 ⌬F508 c.759AϾG 9T/7T 5 58 49 ⌬F508 L206W 9T/9T 6 44 27 ⌬F508 R352W, P750L - 7 38 41 ⌬F508 - 9T-TG10 5T-TG12 8 24 - ⌬F508 - 9T-TG10 5T-TG12 9 25 27 ⌬F508 - 9T-TG10 5T-TG12 10 24 25 ⌬F508 - 9T-TG12 5T-TG12 11 35 26 ⌬F508 - 9T 9T Soultan et al The Journal of Pediatrics • December 2008 should be followed. Login to comment