Characterization of mutations at nucleotide 1138 of the fibroblast growth factor receptor 3 gene in Filipino patients with achondroplasia / (Record no. 2965)

MARC details
000 -LEADER
fixed length control field 02162nam a22002417a 4500
003 - CONTROL NUMBER IDENTIFIER
control field DOH
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20210218141953.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 210218b ||||| |||| 00| 0 eng d
245 00 - TITLE STATEMENT
Title Characterization of mutations at nucleotide 1138 of the fibroblast growth factor receptor 3 gene in Filipino patients with achondroplasia /
520 3# - SUMMARY, ETC.
Summary, etc. Introduction. Achondroplasia is the most common form of short limbed dwarfism with a birth incidence between 1:7,500 and 1:70,000. In >97% of cases, this autosomal dominant disorder is associated with a G to A or a G to C mutation at nucleotide 1138 in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene. Both mutations result in the substitution of a glycine (Gly) to arginine (Arg) residue at position 380 in the transmembrane domain of the FGFR3 protein. <br/><br/>Methods. To assess the presence of this mutation in 11 unrelated Filipino patients with achondroplasia, RFLP digestion of their PCR amplified genomic DNA was done. The PCR products were digested with the restriction enzymes SfcI andMspI to determine the G1138A transition and the G1138C transversion, respectively. Results. We report that ten of the 11 patients were heterozygous for the G to A mutation. Only one patient had the G to C mutation in the same position. <br/><br/>Conclusion. Majority of Filipino patients with achondroplasia have the same mutation most often defined in patients with achondroplasia from other countries. This further supports that the majority of patients with achondroplasia have a Gly to Arg substitution caused by a G to A change at nt 1138 of the FGFR3 gene.
580 ## - LINKING ENTRY COMPLEXITY NOTE
Linking entry complexity note In: Acta Medica Philippina, 2008 vol 42 (2) pages: 14-16
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Achondroplasia
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Fibroblast Growth Factor
653 ## - INDEX TERM--UNCONTROLLED
Uncontrolled term GFR3
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silao, Catherine Lynn T.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Asprer, Joanna Stella T.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abaya, Christian Eric
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiong, Mary Anne D.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name David-Padilla, Carmencita
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2392/1714">https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2392/1714</a>
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Journal Article
999 ## -
-- 2965
-- 2965
Holdings
Withdrawn status Lost status Source of classification or shelving scheme Damaged status Not for loan Home library Current library Shelving location Date acquired Total Checkouts Full call number Barcode Date last seen Price effective from Koha item type
    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/18/2021   J000060 D0001J000060 02/18/2021 02/18/2021 Journal Article