MOLECULAR AND CYTOGENETIC ANALYSIS OF AN INTERSTITIAL 20P DELETION ASSOCIATED WITH SYNDROMIC INTRAHEPATIC DUCTULAR HYPOPLASIA (ALAGILLE SYNDROME)

被引:62
作者
SCHNITTGER, S
HOFERS, C
HEIDEMANN, P
BEERMANN, F
HANSMANN, I
机构
[1] UNIV GOTTINGEN,INST HUMANGENET,ROBERT KOCH STR 40,D-3400 GOTTINGEN,FED REP GER
[2] UNIV GOTTINGEN,KINDERKLIN & POLIKLIN,D-3400 GOTTINGEN,FED REP GER
关键词
D O I
10.1007/BF00285164
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:239 / 244
页数:6
相关论文
共 41 条
[21]  
Loiodice G, 1970, Minerva Pediatr, V22, P1084
[22]  
Maniatis T., 1982, MOL CLONING
[23]   GENE ENCODING HUMAN GROWTH HORMONE-RELEASING FACTOR PRECURSOR - STRUCTURE, SEQUENCE, AND CHROMOSOMAL ASSIGNMENT [J].
MAYO, KE ;
CERELLI, GM ;
LEBO, RV ;
BRUCE, BD ;
ROSENFELD, MG ;
EVANS, RM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (01) :63-67
[24]  
MCKUSICK VA, 1988, MENDELIAN INHERITANC
[25]  
MUELLER RF, 1984, CLIN GENET, V25, P323
[26]  
ODIEVRE M, 1981, ARCH DIS CHILD, V56, P373, DOI 10.1136/adc.56.5.373
[27]   PAUCITY OF INTERLOBULAR BILE-DUCTS - GETTING TO KNOW IT BETTER [J].
PERRAULT, J .
DIGESTIVE DISEASES AND SCIENCES, 1981, 26 (06) :481-484
[28]   LABELING DEOXYRIBONUCLEIC-ACID TO HIGH SPECIFIC ACTIVITY INVITRO BY NICK TRANSLATION WITH DNA-POLYMERASE I [J].
RIGBY, PWJ ;
DIECKMANN, M ;
RHODES, C ;
BERG, P .
JOURNAL OF MOLECULAR BIOLOGY, 1977, 113 (01) :237-251
[29]  
SCHINZEL A, 1984, CATALOGUE UNBALANCED, P674
[30]   CONTIGUOUS GENE SYNDROMES - A COMPONENT OF RECOGNIZABLE SYNDROMES [J].
SCHMICKEL, RD .
JOURNAL OF PEDIATRICS, 1986, 109 (02) :231-241