Molecular analysts in Brazilian cystic fibrosis patients reveals five novel mutations.

被引:0
|
作者
Bernardino, ALF
Ferri, A
Passos-Bueno, MR
Kim, CAE
Nakaie, CMA
Gomes, CET
Damaceno, N
Zatz, M
机构
[1] Univ Sao Paulo, Dept Biol, Ctr Estudos Genoma Humano, Sao Paulo, Brazil
[2] Univ Sao Paulo, Inst Crianca, Sao Paulo, Brazil
[3] UNIFESP, Escola Paulista Med, Dept Pneumol, Sao Paulo, Brazil
[4] Santa Casa Misericordia, Dept Pediat, Sao Paulo, Brazil
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
1164
引用
收藏
页码:A211 / A211
页数:1
相关论文
共 50 条
  • [1] Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations
    Bernardino, ALF
    Ferri, A
    Passos-Bueno, MR
    Kim, CEA
    Nakaie, CMA
    Gomes, CET
    Damaceno, N
    Zatz, M
    [J]. GENETIC TESTING, 2000, 4 (01): : 69 - 74
  • [2] PAN-ETHNIC POPULATIONS ARE ENRICHED FOR RARE AND NOVEL CYSTIC FIBROSIS MUTATIONS.
    Neitzel, D.
    Perreault-Micale, C.
    Davie, J.
    Mullen, T.
    [J]. FERTILITY AND STERILITY, 2015, 104 (03) : E206 - E206
  • [3] Pyrosequencing™ assess the most common Cystic Fibrosis mutations.
    Toth, SI
    Schiller, AL
    Dunker, J
    Larsson, U
    Storgards, M
    Alderborn, A
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 407 - 407
  • [4] Analysis of five CFTR mutations in Hungarian cystic fibrosis patients
    Nemeth, K
    Fekete, G
    Kiss, E
    Varadi, A
    Holics, K
    Ujhelyi, R
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (03) : 378 - 378
  • [5] Novel CFTR mutations in black cystic fibrosis patients
    Feuillet-Fieux, MN
    Ferrec, M
    Gigarel, N
    Thuillier, L
    Sermet, I
    Steffann, J
    Lenoir, G
    Bonnefont, JP
    [J]. CLINICAL GENETICS, 2004, 65 (04) : 284 - 287
  • [6] Novel missense mutations in the Cystic Fibrosis gene of Brazilian patients with congenital absence of Vas Deferens.
    Pieri, PC
    Missaglia, MT
    Roque, JA
    Moreira, CA
    Hallak, J
    [J]. FERTILITY AND STERILITY, 2005, 84 : S223 - S224
  • [7] A Tale of Two SNPs in routine genetic testing for cystic fibrosis mutations.
    Yang, Y
    Kornreich, R
    Edelmann, L
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 388 - 388
  • [8] Non-classic cystic fibrosis phenotypes in the absence of CFTR mutations.
    Groman, JD
    Karczeski, B
    Meyer, ME
    Zeitlin, PL
    Wilmott, RW
    Cutting, GR
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 551 - 551
  • [9] Molecular analysis of 23 exons of the CFTR gene in Brazilian patients leads to the finding of rare cystic fibrosis mutations
    Cabello, GMK
    Cabello, PH
    Otsuki, K
    Gombarovits, ME
    Llerena, JC
    Fernandes, O
    [J]. HUMAN BIOLOGY, 2005, 77 (01) : 125 - 135
  • [10] Identification of novel mutations in Hispanic cystic fibrosis patients.
    Wang, J
    Bowman, M
    Hsu, E
    Wertz, K
    Wong, L
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A411 - A411