Molecular analyses in hemophilia B families:: identification of six new mutations in factor IX gene

被引：0

作者：

Espinós, C ^{[1
]}

Casaña, P ^{[1
]}

Haya, S ^{[1
]}

Cid, AR ^{[1
]}

Aznar, JA ^{[1
]}

机构：

[1] Univ Valencia, Hosp La Fe, Unidad Coagulopatias Congenitas, Valencia 46009, Spain

来源：

HAEMATOLOGICA | 2003年 / 88卷 / 02期

关键词：

hemophilia B; factor IX gene; mutations;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Twenty-two Spanish families with hemophilia B have been studied in order to characterize the mutation responsible for the disorder and to carry out family studies. All the essential regions of the factor IX gene were sequenced and the pathologic mutation was identified in every case. Twenty different molecular changes were identified, six of them undescribed elsewhere.

引用

页码：235 / 236

页数：2

共 50 条

[21] First factor IX mutations in Albanian hemophilia B patients
Castaman, Giancarlo
Giacomelli, Sofia H.
Ghiotto, Rossella
Pojani, Keti
Rodeghiero, Francesco
AMERICAN JOURNAL OF HEMATOLOGY, 2008, 83 (01) : 88 - 89
[22] HETERODUPLEX SCREENING OF FACTOR-IX (IX) GENES IN HEMOPHILIA-B FAMILIES
THOMPSON, AR
SCHOOF, JM
CHEN, SH
CIRCULATION, 1994, 90 (04) : 618 - 618
[23] METHYLATION OF THE FACTOR-IX GENE IS THE MAIN SOURCE OF MUTATIONS CAUSING HEMOPHILIA-B
MAZIN, AL
MOLECULAR BIOLOGY, 1995, 29 (01) : 39 - 53
[24] SPLICE JUNCTION MUTATIONS IN FACTOR-IX GENE RESULTING IN SEVERE HEMOPHILIA-B
CHEN, SH
ZHANG, M
THOMPSON, AR
BRAY, GL
SCOTT, CR
NUCLEIC ACIDS RESEARCH, 1991, 19 (05) : 1172 - 1172
[25] DETECTION OF 10 NEW MUTATIONS BY SCREENING THE GENE ENCODING FACTOR-IX OF DANISH HEMOPHILIA-B PATIENTS
NIELSEN, LR
SCHEIBEL, E
INGERSLEV, J
SCHWARTZ, M
THROMBOSIS AND HAEMOSTASIS, 1995, 73 (05) : 774 - 778
[26] A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity
Meireles, Mariana R.
Bragatte, Marcelo A. S.
Bandinelli, Eliane
Salzano, Francisco M.
Vieira, Gustavo F.
HUMAN MUTATION, 2019, 40 (06) : 706 - 715
[27] MOLECULAR DEFECTS OF THE FACTOR-IX GENE CAUSING SEVERE HEMOPHILIA-B
LUDWIG, M
SCHWAAB, R
BRACKMANN, HH
EGLI, H
OLEK, K
THROMBOSIS AND HAEMOSTASIS, 1987, 58 (01) : 352 - 352
[28] A MUTATION IN THE 3' UNTRANSLATED REGION OF THE FACTOR-IX GENE IN 4 FAMILIES WITH HEMOPHILIA-B
VIELHABER, E
JACOBSON, DP
KETTERLING, RP
LIU, JZ
SOMMER, SS
HUMAN MOLECULAR GENETICS, 1993, 2 (08) : 1309 - 1310
[29] HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES
CHEN, SH
SCHOOF, JM
WEINMANN, AF
THOMPSON, AR
BRITISH JOURNAL OF HAEMATOLOGY, 1995, 89 (02) : 409 - 412
[30] BLEEDING DISORDERS - HEMOPHILIA-B AND FACTOR-IX MUTATIONS
STIRLING, D
LUDLAM, CA
LANCET, 1993, 341 (8853): : 1127 - 1128

← 1 2 3 4 5 →