SCOPUS 정보 검색 플랫폼

Volumn 125, Issue 6, 2004, Pages 817-818

Severe factor XI deficiency caused by compound heterozygosity [3]

(7) Dai, Letian a Mitchell, Michael a Carson, Philip b Creagh, Desmond b Cutler, Jacky a Savidge, Geoffrey a Alhaq, Anwar a

a ST THOMAS HOSPITAL (United Kingdom)

b ROYAL CORNWALL HOSPITAL (United Kingdom)

Author keywords

Compound heterozygosity; Factor XI deficiency; Mutation

Indexed keywords

ISOLEUCINE; LYSINE;

ADULT; AMINO ACID SUBSTITUTION; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; DISEASE SEVERITY; DNA SEQUENCE; EXON; HETEROZYGOSITY LOSS; HUMAN; LAPAROSCOPIC SURGERY; LETTER; MISSENSE MUTATION; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION;

EUROPEAN CONTINENTAL ANCESTRY GROUP; FACTOR XI; FACTOR XI DEFICIENCY; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE;

EID: 3042592383 PISSN: 00071048 EISSN: None Source Type: Journal
DOI: 10.1111/j.1365-2141.2004.04979.x Document Type: Letter

Times cited : (8)

References (6)

1
- 0032958492
- Identification of a novel mutation in a non-Jewish factor XI deficient kindred
- Alhaq, A., Mitchell, M., Sethi, M., Rahman, S., Flynn, G., Boulton, P., Caeno, G., Smith, M. & Savidge G. (1999) Identification of a novel mutation in a non-Jewish factor XI deficient kindred. British Journal of Haematology, 104, 44-49.
- (1999) British Journal of Haematology , vol.104 , pp. 44-49
- Alhaq, A.¹ Mitchell, M.² Sethi, M.³ Rahman, S.⁴ Flynn, G.⁵ Boulton, P.⁶ Caeno, G.⁷ Smith, M.⁸ Savidge, G.⁹

2
- 0025815673
- Factor XI deficiency in Ashkenazi Jews in Israel
- Asakai, R., Chung, D.W., Davie, E.W. & Seligsohn, U. (1991) Factor XI deficiency in Ashkenazi Jews in Israel. New England Journal of Medicine, 325, 153-815.
- (1991) New England Journal of Medicine , vol.325 , pp. 153-815
- Asakai, R.¹ Chung, D.W.² Davie, E.W.³ Seligsohn, U.⁴

3
- 0037385083
- Amelioration of antigen-induced arthritis in rats by transfer of extracellular superoxide dismutase and catalase genes
- Dai, L., Claxson, A., Marklund, S. L., Feakins, R., Yousaf, N., Chernajovsky, Y. & Winyard, P.G. (2003) Amelioration of antigen-induced arthritis in rats by transfer of extracellular superoxide dismutase and catalase genes. Gene Therapy, 10, 550-558.
- (2003) Gene Therapy , vol.10 , pp. 550-558
- Dai, L.¹ Claxson, A.² Marklund, S.L.³ Feakins, R.⁴ Yousaf, N.⁵ Chernajovsky, Y.⁶ Winyard, P.G.⁷

4
- 0029083217
- Identification of two novel mutations in non-Jewish factor XI deficiency
- Imanaka, Y., Lal, K., Nishimura, T., Bolton-Maggs, P.H., Tuddenham, E.G. & McVey, J.H. (1995) Identification of two novel mutations in non-Jewish factor XI deficiency. British Journal of Haematology, 90, 916-920.
- (1995) British Journal of Haematology , vol.90 , pp. 916-920
- Imanaka, Y.¹ Lal, K.² Nishimura, T.³ Bolton-Maggs, P.H.⁴ Tuddenham, E.G.⁵ McVey, J.H.⁶

5
- 0031092272
- The human gene mutation database
- Krawczak, M. & Cooper, D.N. (1997) The human gene mutation database. Trends in Genetics, 13, 121-122.
- (1997) Trends in Genetics , vol.13 , pp. 121-122
- Krawczak, M.¹ Cooper, D.N.²

6
- 0028965129
- Six point mutations that cause factor XI deficiency
- Pugh, R.E., McVey, J.H., Tuddenham, E.G. & Hancock, J.F. (1995) Six point mutations that cause factor XI deficiency. Blood, 85, 1509-1516.
- (1995) Blood , vol.85 , pp. 1509-1516
- Pugh, R.E.¹ McVey, J.H.² Tuddenham, E.G.³ Hancock, J.F.⁴

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