NOVEL SMALL MUTATIONS ALONG THE DMD/BMD GENE ASSOCIATED WITH DIFFERENT PHENOTYPES

被引:31
作者
NIGRO, V [1 ]
NIGRO, G [1 ]
ESPOSITO, MG [1 ]
COMI, LI [1 ]
MOLINARI, AM [1 ]
PUCA, GA [1 ]
POLITANO, L [1 ]
机构
[1] UNIV NAPLES 2,FAC MED,DIPARTIMENTO INTERNIST CLIN & SPERIMENTALE F MAGR,I-80138 NAPLES,ITALY
关键词
D O I
10.1093/hmg/3.10.1907
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1907 / 1908
页数:2
相关论文
共 17 条
[1]  
Emery AEH, 1993, DUCHENNE MUSCULAR DY
[2]  
HAGIWAR Y, 1994, AM J HUM GENET, V54, P53
[3]  
KILIMANN MW, 1992, HUM GENET, V89, P253
[4]   THE COMPLETE SEQUENCE OF DYSTROPHIN PREDICTS A ROD-SHAPED CYTOSKELETAL PROTEIN [J].
KOENIG, M ;
MONACO, AP ;
KUNKEL, LM .
CELL, 1988, 53 (02) :219-228
[5]   THE CHICKEN DYSTROPHIN CDNA - STRIKING CONSERVATION OF THE C-TERMINAL CODING AND 3' UNTRANSLATED REGIONS BETWEEN MAN AND CHICKEN [J].
LEMAIRE, C ;
HEILIG, R ;
MANDEL, JL .
EMBO JOURNAL, 1988, 7 (13) :4157-4162
[6]   POINT MUTATIONS AT THE CARBOXY-TERMINUS OF THE HUMAN DYSTROPHIN GENE - IMPLICATIONS FOR AN ASSOCIATION WITH MENTAL-RETARDATION IN DMD PATIENTS [J].
LENK, U ;
HANKE, R ;
THIELE, H ;
SPEER, A .
HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1877-1881
[7]   INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS [J].
NICHOLSON, LVB ;
JOHNSON, MA ;
BUSHBY, KMD ;
GARDNERMEDWIN, D ;
CURTIS, A ;
GINJAAR, IB ;
DENDUNNEN, JT ;
WELCH, JL ;
BUTLER, TJ ;
BAKKER, E ;
VANOMMEN, GJB ;
HARRIS, JB .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (09) :728-736
[8]  
NIGRO G, 1994, IN PRESS NEUROMUSCUL, V4
[9]   DETECTION OF A NONSENSE MUTATION IN THE DYSTROPHIN GENE BY MULTIPLE SSCP [J].
NIGRO, V ;
POLITANO, L ;
NIGRO, G ;
ROMANO, SC ;
MOLINARI, AM ;
PUCA, GA .
HUMAN MOLECULAR GENETICS, 1992, 1 (07) :517-520
[10]   IDENTIFICATION OF 2 POINT MUTATIONS AND A ONE BASE DELETION IN EXON 19 OF THE DYSTROPHIN GENE BY HETERODUPLEX FORMATION [J].
PRIOR, TW ;
PAPP, AC ;
SNYDER, PJ ;
BURGHES, AHM ;
SEDRA, MS ;
WESTERN, LM ;
BARTELLO, C ;
MENDELL, JR .
HUMAN MOLECULAR GENETICS, 1993, 2 (03) :311-313