NEW VARIETY OF SPONDYLOEPIPHYSEAL DYSPLASIA CHARACTERIZED BY PUNCTATE CORNEAL-DYSTROPHY AND ABNORMAL DERMAL COLLAGEN FIBRILS

被引：28
作者：
BYERS, PH
HOLBROOK, KA
HALL, JG
BORNSTEIN, P
CHANDLER, JW
机构：
[1] UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
[2] UNIV WASHINGTON,SCH MED,DEPT BIOL STRUCT,SEATTLE,WA 98195
[3] UNIV WASHINGTON,SCH MED,DEPT PEDIAT,SEATTLE,WA 98195
[4] UNIV WASHINGTON,SCH MED,DEPT OPHTHALMOL,SEATTLE,WA 98195
来源：
HUMAN GENETICS | 1978年 / 40卷 / 02期
关键词：
D O I：
10.1007/BF00272296
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：157 / 169
页数：13
相关论文
共 45 条
[1]  
[Anonymous], [No title captured]
[2]   NH2-TERMINAL EXTENSIONS ON SKIN COLLAGEN FROM SHEEP WITH A GENETIC DEFECT IN CONVERSION OF PROCOLLAGEN INTO COLLAGEN [J].
BECKER, U ;
TIMPL, R ;
HELLE, O ;
PROCKOP, DJ .
BIOCHEMISTRY, 1976, 15 (13) :2853-2862
[3]   BIOSYNTHESIS OF COLLAGEN [J].
BORNSTEIN, P .
ANNUAL REVIEW OF BIOCHEMISTRY, 1974, 43 :567-603
[4]   TRIDIMENSIONAL STRUCTURE OF NATIVE COLLAGENOUS FIBRILS, THEIR PROTEINACEOUS FILAMENTS [J].
BOUTEILLE, M ;
PEASE, DC .
JOURNAL OF ULTRASTRUCTURE RESEARCH, 1971, 35 (3-4) :314-+
[5]  
BRON AJ, 1974, GENETIC METABOLIC EY, P281
[6]  
Byers P H, 1976, Birth Defects Orig Artic Ser, V12, P293
[7]  
BYERS PH, 1975, MEDICINE, V2, P3
[8]  
BYERS PH, BIRTH DEFECTS OAS
[9]  
CARTER C, 1970, S OSSIUM
[10]   CHEMICAL AND ENZYMIC STUDIES OF A FAMILY WITH SKELETAL ABNORMALITIES ASSOCIATED WITH MENTAL RETARDATION [J].
CLAUSEN, J ;
DYGGVE, HV ;
MELCHIOR, JC .
CLINICA CHIMICA ACTA, 1970, 29 (02) :197-&
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