A novel homozygous nonsense mutation in the calpastatin (CAST) gene associated with peeling skin phenotype in a child

被引：0

作者：

Saricaoglu, Hayriye ^{[1
]}

Temel, Sehime ^{[1
]}

Zorlu, Ozge ^{[1
]}

Turkgenc, Burcu ^{[2
]}

Kutuk, Ozgur ^{[3
]}

Karakas, Bahriye ^{[4
]}

Kiran, Ummuhan ^{[1
]}

Erguner, Bekir ^{[5
]}

Yakicier, Cengiz ^{[2
]}

机构：

[1] Uludag Univ, Bursa, Turkey

[2] Acibadem Univ, Istanbul, Turkey

[3] Baskent Univ, Ankara, Turkey

[4] Sabanci Univ, Istanbul, Turkey

[5] Sci & Technol Res Council Turkey, Ankara, Turkey

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 2018年 / 79卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

6546

引用

页码：AB16 / AB16

页数：1

共 50 条

[21] Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene
Orosz, Orsolya
Czegledi, Miklos
Kantor, Iren
Balogh, Istvan
Vajas, Attila
Takacs, Lili
Berta, Andras
Losonczy, Gergely
MOLECULAR VISION, 2015, 21 : 124 - 130
[22] A novel homozygous nonsense mutation in the PDE6C gene discovered in a patient with achromatopsia
Seraly, Mark
Sullivan, Jack M.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
[23] Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
Mezreani, Jean
Audet, Sebastien
Martin, Florence
Charbonneau, Jade
Triassi, Valerie
Bareke, Eric
Laplante, Annie
Karamchandani, Jason
Massie, Rami
Chalk, Colin H.
O'Ferrall, Erin
Tetreault, Martine
NPJ GENOMIC MEDICINE, 2022, 7 (01)
[24] Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
Jean Mezreani
Sébastien Audet
Florence Martin
Jade Charbonneau
Valérie Triassi
Eric Bareke
Annie Laplante
Jason Karamchandani
Rami Massie
Colin H. Chalk
Erin O’Ferrall
Martine Tétreault
npj Genomic Medicine, 7
[25] A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Caglayan, Ahmet O.
Tuysuz, Beyhan
Coskun, Suleyman
Quon, Jennifer
Harmanci, Akdes S.
Baranoski, Jacob F.
Baran, Burcin
Erson-Omay, E. Zeynep
Henegariu, Octavian
Mane, Shrikant M.
Bilguvar, Kaya
Yasuno, Katsuhito
Gunel, Murat
JOURNAL OF HUMAN GENETICS, 2016, 61 (05) : 395 - 403
[26] A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Ahmet O Çağlayan
Beyhan Tüysüz
Süleyman Coşkun
Jennifer Quon
Akdes S Harmancı
Jacob F Baranoski
Burçin Baran
E Zeynep Erson-Omay
Octavian Henegariu
Shrikant M Mane
Kaya Bilgüvar
Katsuhito Yasuno
Murat Günel
Journal of Human Genetics, 2016, 61 : 395 - 403
[27] Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's disease
Nakayama, J
Yoshizawa, T
Yamamoto, N
Arinami, T
NEUROSCIENCE LETTERS, 2002, 320 (1-2) : 77 - 80
[28] A NOVEL NONSENSE MUTATION IN KRAS GENE
Palmirotta, Raffaele
Savonarola, Annalisa
Formica, Vincenzo
Ludovici, Giorgia
D'Alessandro, Roberta
Leone, Barbara
Ciancia, Marco
Liberatore, Raffaela
D'Angelo, Stella
Roselli, Mario
Guadagni, Fiorella
ANTICANCER RESEARCH, 2008, 28 (5C) : 3433 - 3433
[29] A mutation in exon 8 of the cherubism Gene is associated with a novel autointlammatory phenotype that affects the skin and the bone
Ferguson, P.
Azar, A.
El-Shanti, H.
Bing, X.
Ballas, Z.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2008, 26 (02) : 173 - 173
[30] Molecular basis of a novel rhino (hrrhChr) phenotype:: a nonsense mutation in the mouse hairless gene
Ahmad, W
Panteleyev, AA
Henson-Apollonio, V
Sundberg, JP
Christiano, AM
EXPERIMENTAL DERMATOLOGY, 1998, 7 (05) : 298 - 301

← 1 2 3 4 5 →