COMPLEX GLYCEROL KINASE-DEFICIENCY - MOLECULAR-GENETIC, CYTOGENETIC, AND CLINICAL-STUDIES OF 5 JAPANESE PATIENTS

被引：19

作者：

MATSUMOTO, T

KONDOH, T

YOSHIMOTO, M

FUJIEDA, K

MATSUURA, N

MATSUDA, I

MIIKE, T

YANO, K

OKUNO, A

AOKI, Y

MURANO, I

TOYOTA, S

OHNISHI, S

NIIKAWA, N

机构：

[1] NAGASAKI UNIV,SCH MED,DEPT PEDIAT,NAGASAKI 852,JAPAN

[2] HOKKAIDO UNIV,SCH MED,DEPT PEDIAT,SAPPORO,HOKKAIDO 060,JAPAN

[3] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,KUMAMOTO 860,JAPAN

[4] KUMAMOTO UNIV,SCH MED,DEPT CHILD DEV,KUMAMOTO 860,JAPAN

[5] ASAHIKAWA MED COLL,DEPT PEDIAT,ASAHIKAWA 07811,JAPAN

[6] YAMAGUCHI UNIV,SCH MED,DEPT PEDIAT,UBE,YAMAGUCHI 755,JAPAN

[7] KAGAWA MED SCH,DEPT PEDIAT,KAGAWA,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1988年 / 31卷 / 03期

关键词：

D O I：

10.1002/ajmg.1320310315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：603 / 616

页数：14

相关论文

共 29 条

[1] DUCHENNE MUSCULAR-DYSTROPHY, GLYCEROL KINASE-DEFICIENCY, AND ADRENAL INSUFFICIENCY ASSOCIATED WITH XP21 INTERSTITIAL DELETION
BARTLEY, JA
PATIL, S
DAVENPORT, S
GOLDSTEIN, D
PICKENS, J
[J]. JOURNAL OF PEDIATRICS, 1986, 108 (02) : 189 - 192
[2] BARTLEY JA, 1982, LANCET, V2, P733
[3] LOCALIZATION OF XP21 MEIOTIC EXCHANGE POINTS IN DUCHENNE MUSCULAR-DYSTROPHY FAMILIES
BERTELSON, CJ
BARTLEY, JA
MONACO, AP
COLLETTIFEENER, C
FISCHBECK, K
KUNKEL, LM
[J]. JOURNAL OF MEDICAL GENETICS, 1986, 23 (06) : 531 - 537
[4] CHELLY J, 1988, CYTOGENET CELL GENET, V46, P592
[5] DUNGER DB, 1986, LANCET, V1, P585
[6] MOLECULAR PROBES DEFINE DIFFERENT REGIONS OF THE MOUSE T-COMPLEX
FOX, HS
MARTIN, GR
LYON, MF
HERRMANN, B
FRISCHAUF, AM
LEHRACH, H
SILVER, LM
[J]. CELL, 1985, 40 (01) : 63 - 69
[7] FRANCKE U, 1985, AM J HUM GENET, V37, P250
[8] FRANCKE U, 1987, AM J HUM GENET, V40, P212
[9] GOONEWARDENA P, 1988, CYTOGENET CELL GENET, V46, P621
[10] GLYCEROL KINASE-DEFICIENCY WITH NEUROMUSCULAR, SKELETAL, AND ADRENAL ABNORMALITIES
GUGGENHEIM, MA
MCCABE, ERB
ROIG, M
GOODMAN, SI
LUM, GM
BULLEN, WW
RINGEL, SP
[J]. ANNALS OF NEUROLOGY, 1980, 7 (05) : 441 - 449