Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: Identification of six novel mutations

2008 ◽  
Vol 4 (2) ◽  
pp. 93-99 ◽  
Author(s):  
M. Macías ◽  
M. Dean ◽  
A. Atkinson ◽  
S. Jiménez-Morales ◽  
F.J. García-Vazquez ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Gene Mutations ◽  
Novel Mutations ◽  
Rb1 Gene ◽  
Mexican Patients

RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations

2011 ◽  
Vol 204 (6) ◽  
pp. 316-322 ◽  
Author(s):  
Ali Ahani ◽  
Babak Behnam ◽  
Hamid Reza Khorram Khorshid ◽  
Mohammad Taghi Akbari
Keyword(s):  
Gene Mutations ◽  
Novel Mutations ◽  
Rb1 Gene ◽  
Iranian Patients

Identification of novel mutations in the RB1 gene in Mexican patients with retinoblastoma

2002 ◽  
Vol 138 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Maricela Rodrı́guez ◽  
Mauricio Salcedo ◽  
Marina González ◽  
Ramón Coral-Vazquez ◽  
Fabio Salamanca ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Rb1 Gene ◽  
Mexican Patients

scholarly journals Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

2007 ◽  
Vol 127 (3) ◽  
pp. 588-593 ◽  
Author(s):  
Maurice A.M. van Steensel ◽  
Valerie L.R.M. Verstraeten ◽  
Jorge Frank ◽  
Nicole W.J. Kelleners-Smeets ◽  
Pamela Poblete-Gutiérrez ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Novel Mutations

Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia

2018 ◽  
Vol 12 (3) ◽  
pp. 693-701 ◽  
Author(s):  
Teresita De Jesús Hernández Flores ◽  
Juan Ramón González García ◽  
Ana Gabriela Colima Fausto ◽  
Norma Alejandra Vázquez Cárdenas ◽  
Yoaly Sánchez López ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Gene Mutations ◽  
Homozygous Familial Hypercholesterolemia ◽  
Apob Gene ◽  
Mexican Patients

scholarly journals Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

2015 ◽  
Vol 3 (3) ◽  
pp. 197-202 ◽  
Author(s):  
Mariana Pérez‐Coria ◽  
José J. Lugo‐Trampe ◽  
Michell Zamudio‐Osuna ◽  
Iram P. Rodríguez‐Sánchez ◽  
Angel Lugo‐Trampe ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Mexican Patients

IDENTIFICATION OF RB1 GENE MUTATIONS WITH CONSTITUTIONAL ORIGIN

2001 ◽  
pp. 233-243
Author(s):  
R. RONG ◽  
Y. F. L. LING ◽  
A. E. J. YEOH ◽  
T. C. QUAH ◽  
P. S. LOW ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Rb1 Gene

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

2019 ◽  
Vol 32 (11) ◽  
pp. 1207-1215
Author(s):  
Babak Emamalizadeh ◽  
Yousef Daneshmandpour ◽  
Abbas Tafakhori ◽  
Sakineh Ranji-Burachaloo ◽  
Sajad Shafiee ◽  
...  
Keyword(s):  
Protein Structure ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Protein Product ◽  
Structure And Function ◽  
Novel Mutations ◽  
Chain Reaction ◽  
Abcd1 Gene ◽  
Polymerase Chain ◽  
And Function

Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations

2014 ◽  
Vol 37 (2) ◽  
pp. 238-243 ◽  
Author(s):  
S. Alkindi ◽  
S. AlZadjali ◽  
S. Daar ◽  
R. Ambusaidi ◽  
D. Gravell ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Novel Mutations ◽  
First Report
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