SCOPUS 정보 검색 플랫폼

Volumn 20, Issue 2, 2002, Pages 148-150

I591T MEFV mutation in a Spanish kindred: Is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

(7) Aldea, Anna a Casademont, Jordi a Aróstegui, Juan I a Rius, Josefa a Masó, Montserrat a Vives, Jordi a Yagüe, Jordi a,b

a UNIVERSITY OF BARCELONA (Spain)

b HOSPITAL CLÍNIC (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; DNA POLYMORPHISM; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE; GENE MUTATION; HUMAN; LETTER; MALE; MEVF GENE; PEDIGREE; PRIORITY JOURNAL; SPAIN;

ADULT; AMINO ACID SUBSTITUTION; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HETEROZYGOTE DETECTION; HUMANS; ISOLEUCINE; MALE; MUTATION; NUCLEAR FAMILY; PEDIGREE; POLYMORPHISM, GENETIC; SPAIN; THREONINE; VARIATION (GENETICS);

EID: 0036325978 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/humu.10103 Document Type: Letter

Times cited : (9)

References (12)

1
- 18244429610
- Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
- (1999) Am J Hum Genet , vol.64 , pp. 949-962
- Aksentijevich, I.¹ Torosyan, Y.² Samuels, J.³ Centola, M.⁴ Pras, E.⁵ Chae, J.J.⁶ Oddoux, C.⁷ Wood, G.⁸ Azzaro, M.P.⁹ Palumbo, G.¹⁰ Giustolisi, R.¹¹ Pras, M.¹² Ostrer, H.¹³ Kastner, D.L.¹⁴

2
- 0034926933
- The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
- (2001) Am J Hum Genet , vol.69 , pp. 301-314
- Aksentijevich, I.¹ Galon, J.² Soares, M.³ Mansfield, E.⁴ Hull, K.⁵ Oh, H.H.⁶ Goldbach-Mansky, R.⁷ Dean, J.⁸ Athreya, B.⁹ Reginato, A.J.¹⁰ Henrickson, M.¹¹ Pons-Estel, B.¹² O'Shea, J.J.¹³ Kastner, D.L.¹⁴

3
- 0034164577
- The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Mutations in brief #313
- Online
- (2000) Hum Mutat , vol.15 , pp. 385-386
- Ben-Chetrit, E.¹ Lerer, I.² Malamud, E.³ Domingo, C.⁴ Abeliovich, D.⁵

4
- 0034031649
- The genetic basis of autosomal dominant familial Mediterranean fever
- (2000) QJM , vol.93 , pp. 217-221
- Booth, D.R.¹ Gillmore, J.D.² Lachmann, H.J.³ Booth, S.E.⁴ Bybee, A.⁵ Soytork, M.⁶ Akar, S.⁷ Pepys, M.B.⁸ Tunca, M.⁹ Hawkins, P.N.¹⁰

5
- 0033362158
- MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotypegenetic and therapeutic implications
- (1999) Am J Hum Genet , vol.65 , pp. 88-97
- Cazeneuve, C.¹ Sarkisian, T.² Pecheux, C.³ Dervichian, M.⁴ Nedelec, B.⁵ Reinert, P.⁶ Ayvazyan, A.⁷ Kouyoumdjian, J.C.⁸ Ajrapetyan, H.⁹ Delpech, M.¹⁰ Goossens, M.¹¹ Dode, C.¹² Grateau, G.¹³ Amselem, S.¹⁴

6
- 0033754004
- Identification of MEFV-independent modifying factors for familial Mediterranean fever
- (2000) Am J Hum Genet , vol.67 , pp. 1136-1143
- Cazeneuve, C.¹ Ajrapetyan, H.² Papin, S.³ Roudot-Thoraval, F.⁴ Genevieve, D.⁵ Mndjoyan, E.⁶ Papazian, M.⁷ Sarkisian, A.⁸ Babloyan, A.⁹ Boissier, B.¹⁰ Duquesnoy, P.¹¹ Kouyoumdjian, J.C.¹² Girodon-Boulandet, E.¹³ Grateau, G.¹⁴ Sarkisian, T.¹⁵ Amselem, S.¹⁶

7
- 16944365196
- A candidate gene for familial Mediterranean fever
- (1997) Nat Genet , vol.17 , pp. 25-31

8
- 0030745449
- Ancient missense mutations in a number of the RoRet gene family are likely to cause familial Mediterranean fever
- (1997) Cell , vol.90 , pp. 797-807

9
- 0035146714
- Familial Mediterranean fever in Lebanon: Mutation spectrum, evidence for cases in Maronites, Greek Orthodoxes, Greek Catholics, Syriacs and Shiites and for an association between amyloidosis and M694V and M694I mutations
- (2001) Eur J Hum Genet , vol.9 , pp. 51-55
- Mansour, I.¹ Delague, V.² Cazeneuve, C.³ Dode, C.⁴ Chouery, E.⁵ Pecheux, C.⁶ Medlej-Hashim, M.⁷ Salem, N.⁸ El-Zein, L.⁹ Levan-Petit, I.¹⁰ Lefranc, G.¹¹ Goossens, M.¹² Delpech, M.¹³ Amselem, S.¹⁴ Loiselet, J.¹⁵ Grateau, G.¹⁶ Megarbane, A.¹⁷ Naman, R.¹⁸

11
- 0032855777
- Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis
- (1999) Hum Genet , vol.105 , pp. 360-366
- Moriguchi, M.¹ Terai, C.² Koseki, Y.³ Uesato, M.⁴ Nakajima, A.⁵ Inada, S.⁶ Nishinarita, M.⁷ Uchida, S.⁸ Nakajima, A.⁹ Yoon Kim, Y.¹⁰ Chen, C.-L.¹¹ Kamatani, N.¹²

12
- 0034879132
- The spectrum of familial Mediterranean fever (FMF) mutations
- (2001) Eur J Hum Genet , vol.9 , pp. 473-483
- Touitou, I.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.