PMID: 22550062

Sharma G, Burke J, Bhattacharyya S, Sharma N, Katyal S, Park RL, Tobacman J
Reduced Arylsulfatase B activity in leukocytes from cystic fibrosis patients.
Pediatr Pulmonol. 2012 May 1. doi: 10.1002/ppul.22567., [PubMed]
Sentences
No. Mutations Sentence Comment
66 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 22550062:66:268
status: NEW
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ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 22550062:66:606
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 22550062:66:792
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Arg74Trp
X
ABCC7 p.Arg74Trp 22550062:66:601
status: NEW
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ABCC7 p.Pro798Ser
X
ABCC7 p.Pro798Ser 22550062:66:799
status: NEW
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ABCC7 p.Gly921Glu
X
ABCC7 p.Gly921Glu 22550062:66:805
status: NEW
view ABCC7 p.Gly921Glu details
TABLE 2- Subject Data Gender Age (yrs) PMN ARSBa (nmol/mg protein/hr) MC ARSBb (nmol/mg protein/hr) WBC ARSBc (nmol/mg protein/hr) IL-6d (pg/ml) Other Cystic fibrosis Male 10.5 52.3 44.7 63.9 DF508/DF508 Female 6.5 48.4 63.8 DF508/DF508 Male 14.5 52.0 46.2 66.6 DF508/G551D Female 9 44.1 50.9 60.8 2307insA/3120 þ 1G > A Female 17.5 49.8 53.7 73.8 NAe Male 17.5 57.1 53.0 73.8 DF508/DF508 Female 15.5 46.0 61.3 DF508/1717-1G > A Male 6.5 52.1 68.6 DF508/DF508 Male 16.5 53.6 52.2 66.2 DF508/DF508 Female 9 60.2 53.7 66.8 S1255x(2)/11203V(2) Female 15 42.9 69.4 DF508/DF508 Male 17 50.1 58.1 64.3 R74W/D1270N/(TG)11-5T/(TG)11-7T Female 9 44.4 48.0 58.2 DF508/DF508 Male 8.5 59.7 48.7 65.2 DF508/312011G > A Female 10.5 53.8 58.3 75.1 DF508/312011G > A Male 15 45.5 48.2 50.0 F508del/P74W/D1270N/P798S/G921E Controls Female 5 67.4 66.4 4.8 Neuromuscular Female 4.5 72.7 64.8 5.1 Down Syndrome Female 17 71.7 60.2 4.3 Down Syndrome; renal Male 3.5 83.8 63.6 4.4 Neuromuscular Male 12 71.0 67.6 4.6 Trauma Male 16 68.8 59.4 5.8 Neuromuscular Male 7 82.8 59.4 - Heme/Onc Male 17 78.7 55.8 5.3 Renal Female 16.5 76.9 65.2 4.1 Renal Male 12.5 69.7 66.6 6.3 Renal Male 8 78.0 56.2 5.0 None Female 8 69.6 67.9 5.6 None Female 5 66.8 64.0 4.8 None Female 11 77.9 68.6 5.8 None Male 14 85.5 61.2 5.0 None Female 9 77.6 65.3 5.0 None Female 16 67.4 64.0 5.0 None Female 9 75.9 57.4 4.7 None Male 16 81.9 58.8 5.4 None Male 14 81.3 69.1 6.2 None Male 15.5 73.0 62.9 3.6 None Male 7.5 73.9 57.2 13.5 Asthma Male 11 62.5 69.9 18.2 Asthma Female 11 70.1 65.3 13.8 Asthma Female 8.5 81.3 56.8 11.4 Asthma Male 9 53.1 55.6 12.2 Asthma Male 3.5 60.0 47.6 17.8 Asthma Male 5.5 68.6 39.0 13.0 Asthma Male 12 84.4 45.8 24.9 Asthma Male 12 68.1 51.4 26.6 Asthma Male 16.5 56.3 47.8 26.6 Asthma a for polymorphonuclear leukocyte arylsulfatase B activity. Login to comment