MENKES DISEASE

被引：21

作者：

BANKIER, A

机构：

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

关键词：

D O I：

10.1136/jmg.32.3.213

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：213 / 215

页数：3

共 16 条

[1] ISOLATION OF A CANDIDATE GENE FOR MENKES DISEASE THAT ENCODES A POTENTIAL HEAVY-METAL BINDING-PROTEIN [J].

CHELLY, J ;

TUMER, Z ;

TONNESEN, T ;

PETTERSON, A ;

ISHIKAWABRUSH, Y ;

TOMMERUP, N ;

HORN, N ;

MONACO, AP .

NATURE GENETICS, 1993, 3 (01) :14-19

[2]

DANKS DM, 1972, PEDIATRICS, V50, P188

[3] THE MILD FORM OF MENKES DISEASE - PROGRESS REPORT ON THE ORIGINAL CASE [J].

DANKS, DM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (03) :859-864

[4] MENKES KINKY HAIR DISEASE - FURTHER DEFINITION OF DEFECT IN COPPER TRANSPORT [J].

DANKS, DM ;

CARTWRIGHT, E ;

STEVENS, BJ ;

TOWNLEY, RRW .

SCIENCE, 1973, 179 (4078) :1140-1142

[5] PRIMARY DEFECT IN COPPER TRANSPORT UNDERLIES MOTTLED MUTANTS IN MOUSE [J].

HUNT, DM .

NATURE, 1974, 249 (5460) :852-854

[6] MENKES SYNDROME IN A GIRL WITH X-AUTOSOME TRANSLOCATION [J].

KAPUR, S ;

HIGGINS, JV ;

DELP, K ;

ROGERS, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 26 (02) :503-510

[7] RECENT DEVELOPMENTS IN MENKES DISEASE [J].

KODAMA, H .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :791-799

[8]

LEVENSON B, 1994, NAT GENET, V6, P369

[9] KINKY HAIR DISEASE - 25 YEARS LATER [J].

MENKES, JH .

BRAIN & DEVELOPMENT, 1988, 10 (02) :77-79

[10]

MENKES JH, 1962, PEDIATRICS, V29, P764

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