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Volume 2018, Issue
Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
CASE REPORT
Compound heterozygous mutations with novel missense
ABCA12
mutation in harlequin ichthyosis
Online download statistics by month:
Online download statistics by month: January 2018 to February 2024
Abstract
Full
Pdf
Jan 2018
479
20
10
Feb 2018
87
5
4
Mar 2018
76
4
2
Apr 2018
70
3
11
May 2018
71
2
3
Jun 2018
44
5
3
Jul 2018
64
4
3
Aug 2018
25
1
1
Sep 2018
23
1
3
Oct 2018
17
0
1
Nov 2018
28
4
1
Dec 2018
93
2
4
Jan 2019
93
5
0
Feb 2019
150
1
0
Mar 2019
160
3
1
Apr 2019
113
7
3
May 2019
108
0
1
Jun 2019
93
6
2
Jul 2019
130
4
0
Aug 2019
62
2
0
Sep 2019
80
7
3
Oct 2019
78
1
0
Nov 2019
120
9
2
Dec 2019
87
5
1
Jan 2020
92
0
0
Feb 2020
181
3
2
Mar 2020
105
0
0
Apr 2020
89
0
0
May 2020
89
0
1
Jun 2020
129
1
2
Jul 2020
286
0
1
Aug 2020
122
2
3
Sep 2020
69
2
0
Oct 2020
95
0
0
Nov 2020
109
0
1
Dec 2020
36
1
4
Jan 2021
46
0
0
Feb 2021
31
0
2
Mar 2021
43
1
2
Apr 2021
44
0
0
May 2021
5
0
0
Jun 2021
2
0
0
Jul 2021
2
2
2
Aug 2021
10
1
0
Sep 2021
2
1
1
Oct 2021
26
0
0
Nov 2021
71
0
0
Dec 2021
87
0
0
Jan 2022
76
4
2
Feb 2022
55
0
0
Mar 2022
80
2
3
Apr 2022
47
1
2
May 2022
43
0
0
Jun 2022
106
1
2
Jul 2022
25
0
0
Aug 2022
43
3
0
Sep 2022
41
1
0
Oct 2022
57
0
3
Nov 2022
55
1
0
Dec 2022
50
2
1
Jan 2023
59
1
0
Feb 2023
62
3
1
Mar 2023
48
0
0
Apr 2023
59
0
0
May 2023
75
1
0
Jun 2023
38
0
1
Jul 2023
41
1
0
Aug 2023
17
1
1
Sep 2023
40
1
1
Oct 2023
34
0
0
Nov 2023
51
1
0
Dec 2023
47
0
0
Jan 2024
48
0
0
Feb 2024
121
0
0
Total
5540
139
97
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