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Volumn 101, Issue 1, 1998, Pages 47-49

Factor VII Morioka (FVII L-26P): A homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency

Author keywords

DNA analysis; Factor VII deficiency; Missense mutation; Signal peptide; Translocation

Indexed keywords

BLOOD CLOTTING FACTOR 7; SIGNAL PEPTIDE;

EID: 0031970136     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00666.x     Document Type: Article
Times cited : (10)

References (11)
  • 1
    • 0025013749 scopus 로고
    • Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
    • Arnold, A., Horst, S.A., Gardella, T., Baba, H., Levine, M.A. & Kronenberg. H.M. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. Journal of Clinical Investigation, 86, 1084-1087.
    • (1990) Journal of Clinical Investigation , vol.86 , pp. 1084-1087
    • Arnold, A.1    Horst, S.A.2    Gardella, T.3    Baba, H.4    Levine, M.A.5    Kronenberg, H.M.6
  • 2
    • 0025860324 scopus 로고
    • A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals
    • Green, F., Keller, C., Wikes, H., Temple, A., Meade, T. & Humphries. S. (1491) A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arteriosclerosis and Thrombosis. 11, 540-546.
    • (1491) Arteriosclerosis and Thrombosis , vol.11 , pp. 540-546
    • Green, F.1    Keller, C.2    Wikes, H.3    Temple, A.4    Meade, T.5    Humphries, S.6
  • 4
    • 0029919365 scopus 로고    scopus 로고
    • Low plasma levels of factor VIIc and antigen are more strongly associaled with 10 base pair promoter (-323) insertion than the glutamine 353 variant
    • Humphries, S., Tempel, A., Lane, A., Green, F., Cooper. J. & Miller. G. (1996) Low plasma levels of factor VIIc and antigen are more strongly associaled with 10 base pair promoter (-323) insertion than the glutamine 353 variant. Thrombosis and Haemostasis. 75, 567-572.
    • (1996) Thrombosis and Haemostasis , vol.75 , pp. 567-572
    • Humphries, S.1    Tempel, A.2    Lane, A.3    Green, F.4    Cooper, J.5    Miller, G.6
  • 5
    • 0004330552 scopus 로고
    • Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation
    • O'Hara, P.J., Grant, F.J., Haldeman, B.A., Gray, C.L., lnsley, M.Y., Hagen, F.S. & Murray, M.J. (1987) Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Biochemistry 84, 5158-5162.
    • (1987) Biochemistry , vol.84 , pp. 5158-5162
    • O'Hara, P.J.1    Grant, F.J.2    Haldeman, B.A.3    Gray, C.L.4    Lnsley, M.Y.5    Hagen, F.S.6    Murray, M.J.7
  • 6
    • 0030758447 scopus 로고    scopus 로고
    • Factor VII Toyama (Thr 359Met): A homozygous missense mutation causing severe type I deficiency
    • Ozawa, T., Niiya, K., Higuchi, W. & Sakuragawa. N. (1997) Factor VII Toyama (Thr 359Met): a homozygous missense mutation causing severe type I deficiency. Thrombosis and Haemostasis. 78, 987-989.
    • (1997) Thrombosis and Haemostasis , vol.78 , pp. 987-989
    • Ozawa, T.1    Niiya, K.2    Higuchi, W.3    Sakuragawa, N.4
  • 7
    • 0025719673 scopus 로고
    • Protein transport across the endoplasmic reticulum membrane: Facts, models, mysteries
    • Rapoport, T.A. (1991) Protein transport across the endoplasmic reticulum membrane: facts, models, mysteries. FASEB journal, 5, 2792-2798.
    • (1991) FASEB Journal , vol.5 , pp. 2792-2798
    • Rapoport, T.A.1
  • 8
    • 0030605859 scopus 로고    scopus 로고
    • A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II
    • Seppen, J., Steenken, E., Lindhout. D., Bosma, P.J. & Elferink, R.P.J.O. (1996) A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II. FEBS Letters, 390, 294-298.
    • (1996) FEBS Letters , vol.390 , pp. 294-298
    • Seppen, J.1    Steenken, E.2    Lindhout, D.3    Bosma, P.J.4    Elferink, R.P.J.O.5
  • 9
    • 0029979607 scopus 로고    scopus 로고
    • Common principles of protein translocation across membranes
    • Schatz. G. & Dobberstein, B. (1996) Common principles of protein translocation across membranes. Science, 271, 1519-1526.
    • (1996) Science , vol.271 , pp. 1519-1526
    • Schatz, G.1    Dobberstein, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.