Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA>G/2789+5G>A)

被引：2

作者：

Capurso, Gabriele ^{[1
]}

Sbrozzi-Vanni, Andrea ^{[1
]}

Piane, Maria ^{[2
]}

Begini, Paola ^{[1
]}

Panzuto, Francesco ^{[1
]}

Libi, Fabio ^{[2
]}

Margagnoni, Giovanna ^{[1
]}

Capotondi, Carlo ^{[3
]}

Marignani, Massimo ^{[1
]}

Chessa, Luciana ^{[2
]}

Delle Fave, Gianfranco ^{[1
]}

机构：

[1] Univ Roma La Sapienza, S Andrea Hosp, Digest & Liver Dis Unit, Rome, Italy

[2] Univ Roma La Sapienza, S Andrea Hosp, Med Genet Unit, Rome, Italy

[3] Univ Roma La Sapienza, S Andrea Hosp, Dept Radiol, Rome, Italy

来源：

PANCREAS | 2009年 / 38卷 / 05期

关键词：

CFTR; MUTATIONS; IDENTIFICATION; DISEASE; GENE;

D O I：

10.1097/MPA.0b013e3181967657

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：599 / 601

页数：3

共 14 条

[1] Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
Bobadilla, JL
Macek, M
Fine, JP
Farrell, PM
[J]. HUMAN MUTATION, 2002, 19 (06) : 575 - 606
[2] IDENTIFICATION OF 4 NEW MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - I148T, L1077P, Y1092X, 2183AA-]G
BOZON, D
ZIELENSKI, J
RININSLAND, F
TSUI, LC
[J]. HUMAN MUTATION, 1994, 3 (03) : 330 - 332
[3] The CFTR 3849+10kbC->T and 2789+5G->A alleles are a ssociated with a mild CF phenotype
Duguépéroux, I
De Braekeleer, M
[J]. EUROPEAN RESPIRATORY JOURNAL, 2005, 25 (03) : 468 - 473
[4] Estivill X, 1997, HUM MUTAT, V10, P135, DOI 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO
[5] 2-J
[6] Highsmith WE, 1997, HUM MUTAT, V9, P332, DOI 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.3.CO
[7] 2-P
[8] Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype
Kilinç, MO
Ninis, VN
Tolun, A
Estivill, X
Casals, T
Savov, A
Dagli, E
Karakoç, F
Demirkol, M
Hüner, G
Özkinay, F
Demir, E
Seculi, JL
Pena, J
Bousono, C
Ferrer-Calvete, J
Calvo, C
Glover, G
Kremenski, I
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (04) : 307 - 309
[9] CROHNS-DISEASE AND CYSTIC-FIBROSIS
LLOYDSTILL, JD
[J]. DIGESTIVE DISEASES AND SCIENCES, 1994, 39 (04) : 880 - 885
[10] Fibrosing colonopathy revealing cystic fibrosis in a neonate before any pancreatic enzyme supplementation
Serban, DE
Florescu, P
Miu, N
[J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2002, 35 (03) : 356 - 359

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Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA&gt;G/2789+5G&gt;A)

Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA>G/2789+5G>A)