Identification and analysis of non-deletion dystrophin mutations.

被引:0
|
作者
Austin, MA
Korf, BR
机构
[1] Boston Coll, Chestnut Hill, MA 02167 USA
[2] Childrens Hosp, Boston, MA 02115 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2389
引用
收藏
页码:A408 / A408
页数:1
相关论文
共 50 条
  • [21] Fabry disease: identification of ten novel mutations.
    Azibi, K
    Caillaud, C
    Manicom, J
    Puech, JP
    Kahn, A
    Poenaru, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 631 - 631
  • [22] IDENTIFICATION OF 2 POINT MUTATIONS AND A ONE BASE DELETION IN EXON 19 OF THE DYSTROPHIN GENE BY HETERODUPLEX FORMATION
    PRIOR, TW
    PAPP, AC
    SNYDER, PJ
    BURGHES, AHM
    SEDRA, MS
    WESTERN, LM
    BARTELLO, C
    MENDELL, JR
    HUMAN MOLECULAR GENETICS, 1993, 2 (03) : 311 - 313
  • [23] IN SILICO CHARACTERIZATION OF 10 NEW MUTATIONS RESPONSIBLE FOR NON-DELETION ALPHA-THALASSEMIA AND STRUCTURAL ALPHA-HEMOGLOBINOPATHIES IN SPAIN
    Gonzalo Felix, De la Fuente
    Ana Maria, Villegas Martinez
    Nieto Jorge, Martinez
    Rafael Benigno, Martinez Martinez
    Fernando Ataulfo, Gonzalez Fernandez
    Gradilla Paloma, Ropero
    HAEMATOLOGICA, 2016, 101 : 50 - 51
  • [24] A reverse dot blot method for rapid detection of non-deletion α thalassemia
    Chan, V
    Yam, I
    Chen, FE
    Chan, TK
    BRITISH JOURNAL OF HAEMATOLOGY, 1998, 102 (01) : 56 - 56
  • [25] Analysis of deletion breakpoints in dystrophin transcripts
    Khng, HH
    Low, PS
    Lee, WL
    Ong, HT
    Lai, PS
    FRONTIERS IN HUMAN GENETICS: DISEASES AND TECHNOLOGIES, 2001, : 159 - 171
  • [26] MOLECULAR CHARACTERISTICS OF A NON-DELETION ALPHA-THALASSEMIA OF THE PO RIVER DELTA
    DELSENNO, L
    BERNARDI, F
    BUZZONI, D
    MARCHETTI, G
    PERROTTA, C
    CONCONI, F
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1981, 116 (01): : 127 - 130
  • [27] SEQUENCE-ANALYSIS OF THE FETAL GLOBIN DOMAIN IN THE CHINESE NON-DELETION DELTA-BETA-THALASSEMIA
    ATWEH, GF
    ZHU, XX
    BRICKNER, HE
    FORGET, BG
    CLINICAL RESEARCH, 1988, 36 (03): : A405 - A405
  • [28] Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis
    Lee, SH
    Kwak, IP
    Cha, KE
    Park, SE
    Kim, NK
    Cha, KY
    MOLECULAR HUMAN REPRODUCTION, 1998, 4 (04) : 345 - 349
  • [29] ISOLATION OF HYBRID CELL CLONES THAT CONTAIN DELETION AND NON-DELETION DEFECTS OF ALPHA-THALASSEMIA IN MAN
    DEISSEROTH, A
    BODE, U
    LEBO, R
    DOZY, A
    KAN, YW
    BLOOD, 1980, 55 (06) : 992 - 996
  • [30] Mutation analysis of the aspartoacylase gene in non-Ashkenazi Jewish patients with Canavan disease: Identification of 6 new mutations.
    Sistermans, EA
    van Beerendonk, HM
    de Coo, RFM
    Kleijer, WJ
    van Oost, BA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A346 - A346