SCOPUS 정보 검색 플랫폼

Blood Coagulation and Fibrinolysis

Volumn 26, Issue 1, 2015, Pages 46-49

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency

(4) Jang, Mi Ae a Park, Young Shil b Lee, Ki O c Kim, Hee Jin a

a Sungkyunkwan University School of Medicine (South Korea)

b Kyung Hee University College of Medicine (South Korea)

c Samsung Medical Center (South Korea)

Author keywords

F13A1; factor XIII deficiency; Korea; mutation

Indexed keywords

BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 13A; FRESH FROZEN PLASMA; GENOMIC DNA; UREA; BLOOD CLOTTING FACTOR 13; FACTOR XIII SUBUNIT A;

ADULT; ARTICLE; BLEEDING; BLOOD CLOT LYSIS; BLOOD CLOTTING FACTOR 13 DEFICIENCY; BLOOD CLOTTING TEST; BRAIN HEMORRHAGE; BUTTOCK; CASE REPORT; CHILD; CRYOPRECIPITATE; DISEASE SEVERITY; DNA SEQUENCE; ECHOGRAPHY; EXON; F13A1 GENE; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ANALYZER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KOREAN (PEOPLE); MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE HEMATOMA; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; BLOOD; FACTOR XIII DEFICIENCY; GENETICS; MOLECULAR BIOLOGY; MUTATION; SOUTH KOREA;

ADULT; CHILD; FACTOR XIII; FACTOR XIII DEFICIENCY; FACTOR XIIIA; FEMALE; HUMANS; MALE; MOLECULAR BIOLOGY; MUTATION; REPUBLIC OF KOREA;

EID: 84920794925 PISSN: 09575235 EISSN: 14735733 Source Type: Journal
DOI: 10.1097/MBC.0000000000000171 Document Type: Article

Times cited : (4)

References (10)

1
- 67749095010
- Factor XIII deficiency
- Karimi M, Bereczky Z, Cohan N, Muszbek L. Factor XIII deficiency. Semin Thromb Hemost 2009; 35:426-438.
- (2009) Semin Thromb Hemost , vol.35 , pp. 426-438
- Karimi, M.¹ Bereczky, Z.² Cohan, N.³ Muszbek, L.⁴

2
- 80051781189
- Novel aspects of factor XIII deficiency
- Muszbek L, Bagoly Z, Cairo A, Peyvandi F. Novel aspects of factor XIII deficiency. Curr Opin Hematol 2011; 18:366-372.
- (2011) Curr Opin Hematol , vol.18 , pp. 366-372
- Muszbek, L.¹ Bagoly, Z.² Cairo, A.³ Peyvandi, F.⁴

3
- 79151477210
- Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: A case and literature review
- Perez DL, Diamond EL, Castro CM, Diaz A, Buonanno F, Nogueira RG, et al. Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: a case and literature review. Clin Neurol Neurosurg 2011; 113:142-145.
- (2011) Clin Neurol Neurosurg , vol.113 , pp. 142-145
- Perez, D.L.¹ Diamond, E.L.² Castro, C.M.³ Diaz, A.⁴ Buonanno, F.⁵ Nogueira, R.G.⁶

4
- 80051671241
- An update of the mutation profile of Factor 13 A and B genes
- Biswas A, Ivaskevicius V, Seitz R, Thomas A, Oldenburg J. An update of the mutation profile of Factor 13 A and B genes. Blood Rev 2011; 25:193-204.
- (2011) Blood Rev , vol.25 , pp. 193-204
- Biswas, A.¹ Ivaskevicius, V.² Seitz, R.³ Thomas, A.⁴ Oldenburg, J.⁵

5
- 23744456948
- Impaired wound healing in factor XIII deficient mice
- Inbal A, Lubetsky A, Krapp T, Castel D, Shaish A, Dickneitte G, et al. Impaired wound healing in factor XIII deficient mice. Thromb Haemost 2005; 94:432-437.
- (2005) Thromb Haemost , vol.94 , pp. 432-437
- Inbal, A.¹ Lubetsky, A.² Krapp, T.³ Castel, D.⁴ Shaish, A.⁵ Dickneitte, G.⁶

6
- 84886639937
- Congenital factor XIII deficiency in women: A systematic review of literature
- Sharief LA, Kadir RA. Congenital factor XIII deficiency in women: a systematic review of literature. Haemophilia 2013; 19:e349-e357.
- (2013) Haemophilia , vol.19 , pp. e349-e357
- Sharief, L.A.¹ Kadir, R.A.²

7
- 0028233152
- Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels
- Mikkola H, Syrjala M, Rasi V, Vahtera E, Hamalainen E, Peltonen L, et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84:517-525.
- (1994) Blood , vol.84 , pp. 517-525
- Mikkola, H.¹ Syrjala, M.² Rasi, V.³ Vahtera, E.⁴ Hamalainen, E.⁵ Peltonen, L.⁶

8
- 0035128618
- Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
- Gomez Garcia EB, Poort SR, Stibbe J, Sturk A, Schaap MC, Kappers M, et al. Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Br J Haematol 2001; 112:513-518.
- (2001) Br J Haematol , vol.112 , pp. 513-518
- Gomez Garcia, E.B.¹ Poort, S.R.² Stibbe, J.³ Sturk, A.⁴ Schaap, M.C.⁵ Kappers, M.⁶

9
- 84897576490
- Factor XIII deficiency management: A review of the literature
- Odame JE, Chan AK, Wu JK, Breakey VR. Factor XIII deficiency management: a review of the literature. Blood Coagul Fibrinolysis 2014; 25:199-205.
- (2014) Blood Coagul Fibrinolysis , vol.25 , pp. 199-205
- Odame, J.E.¹ Chan, A.K.² Wu, J.K.³ Breakey, V.R.⁴

10
- 84901499779
- New developments in the management of congenital Factor XIII deficiency
- Fadoo Z, Merchant Q, Rehman KA. New developments in the management of congenital Factor XIII deficiency. J Blood Med 2013; 4:65-73.
- (2013) J Blood Med , vol.4 , pp. 65-73
- Fadoo, Z.¹ Merchant, Q.² Rehman, K.A.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.