scholarly journals Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

2011 ◽  
pp. 55-65 ◽  
Author(s):  
Andrea Zatkova ◽  
Tatiana Sedlackova ◽  
Jan Radvansky ◽  
Helena Polakova ◽  
Martina Nemethova ◽  
...  
Keyword(s):  
Mutation Database

scholarly journals The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence

2008 ◽  
Vol 1 (1) ◽  
pp. 3 ◽  
Author(s):  
Jason M Bechtel ◽  
Preeti Rajesh ◽  
Irina Ilikchyan ◽  
Ying Deng ◽  
Pankaj K Mishra ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Splicing Mutation ◽  
Mutation Database

Reassessment of theTP53 mutation database in human disease by data mining with a library ofTP53 missense mutations

2004 ◽  
Vol 25 (1) ◽  
pp. 6-17 ◽  
Author(s):  
Thierry Soussi ◽  
Shunsuke Kato ◽  
Pierre P. Levy ◽  
Chikashi Ishioka
Keyword(s):  
Data Mining ◽  
Human Disease ◽  
Missense Mutations ◽  
Mutation Database

scholarly journals UMD (Universal Mutation Database): 2005 update

2005 ◽  
Vol 26 (3) ◽  
pp. 184-191 ◽  
Author(s):  
Christophe Béroud ◽  
Dalil Hamroun ◽  
Gwenaëlle Collod-Béroud ◽  
Catherine Boileau ◽  
Thierry Soussi ◽  
...  
Keyword(s):  
Mutation Database

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

2017 ◽  
Vol 152 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Salvatore Savasta ◽  
Giorgia Carlone ◽  
Riccardo Castagnoli ◽  
Francesca Chiappe ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Nucleotide Position ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Nasal Bridge ◽  
Mutation Database ◽  
Exon 1 ◽  
Male Karyotype ◽  
Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

IARC p53 mutation database: A relational database to compile and analyze p53 mutations in human tumors and cell lines

1999 ◽  
Vol 14 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Tina Hernandez-Boussard ◽  
Patricia Rodriguez-Tome ◽  
Ruggero Montesano ◽  
Pierre Hainaut
Keyword(s):  
Cell Lines ◽  
Relational Database ◽  
P53 Mutation ◽  
Human Tumors ◽  
P53 Mutations ◽  
Mutation Database

The COL7A1 mutation database

2011 ◽  
Vol 33 (2) ◽  
pp. 327-331 ◽  
Author(s):  
Katarzyna Wertheim-Tysarowska ◽  
Agnieszka Sobczyńska-Tomaszewska ◽  
Cezary Kowalewski ◽  
Michał Skroński ◽  
Grzegorz Święćkowski ◽  
...  
Keyword(s):  
Mutation Database

Infevers: An evolving mutation database for auto-inflammatory syndromes

2004 ◽  
Vol 24 (3) ◽  
pp. 194-198 ◽  
Author(s):  
Isabelle Touitou ◽  
Suzanne Lesage ◽  
Michael McDermott ◽  
Laurence Cuisset ◽  
Hal Hoffman ◽  
...  
Keyword(s):  
Mutation Database
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