Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females

被引：39
作者：
Kashtan, Clifford E.
机构：
[1] Univ Minnesota, Sch Med, Dept Pediat, Div Pediat Nephrol, Minneapolis, MN 55455 USA
[2] Univ Minnesota Childrens Hosp, Fairview, MN USA
来源：
NEPHROLOGY DIALYSIS TRANSPLANTATION | 2007年 / 22卷 / 06期
关键词：
Alport syndrome; basement membranes; type IV collagen; X chromosome;
D O I：
10.1093/ndt/gfm024
中图分类号：
R3 [基础医学]; R4 [临床医学];
学科分类号：
1001 ; 1002 ; 100602 ;
摘要：
引用
收藏
页码：1499 / 1505
页数：7
相关论文
共 34 条
[1]   Hereditary familial congenital haemorrhagic nephritis. [J].
Alport, AC .
BMJ-BRITISH MEDICAL JOURNAL, 1927, 1927 :504-506
[2]   Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome [J].
Boye, E ;
Mollet, G ;
Forestier, L ;
Cohen-Solal, L ;
Heidet, H ;
Cochat, P ;
Grünfeld, JP ;
Palcoux, JB ;
Gubler, MC ;
Antignac, C .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) :1329-1340
[3]   Genetic cause of X-linked Alport syndrome in a family of domestic dogs [J].
Cox, ML ;
Lees, GE ;
Kashtan, CE ;
Murphy, KE .
MAMMALIAN GENOME, 2003, 14 (06) :396-403
[4]  
CRAWFURD MD, 1968, Q J MED, V37, P563
[5]  
DING J, 1995, J AM SOC NEPHROL, V5, P1714
[6]   Relationship between X-inactivation and clinical involvement in Fabry heterozygotes.: Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population [J].
Dobrovolny, R ;
Dvorakova, L ;
Ledvinova, J ;
Magage, S ;
Bultas, J ;
Lubanda, JC ;
Elleder, M ;
Karetova, D ;
Pavlikova, M ;
Hrebicek, M .
JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (08) :647-654
[7]   HEREDITARY NEPHROPATHY WITH NERVE DEAFNESS (ALPORTS SYNDROME) [J].
FERGUSON, AC ;
RANCE, CP .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1972, 124 (01) :84-&
[8]  
GABOARDI F, 1974, CLIN NEPHROL, V2, P143
[9]  
GRUNFELD JP, 1985, CLIN NEPHROL, V23, P267
[10]   AUTOSOMAL RECESSIVE ALPORT SYNDROME - IMMUNOHISTOCHEMICAL STUDY OF TYPE-IV COLLAGEN CHAIN DISTRIBUTION [J].
GUBLER, MC ;
KNEBELMANN, B ;
BEZIAU, A ;
BROYER, M ;
PIRSON, Y ;
HADDOUM, F ;
KLEPPEL, MM ;
ANTIGNAC, C .
KIDNEY INTERNATIONAL, 1995, 47 (04) :1142-1147
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