A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. (Record no. 17902053)

MARC details
000 -LEADER
fixed length control field 01527 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515114844.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200807s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1525-1578
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.2353/jmoldx.2008.070163
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Cecconi, Massimiliano
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080701
245 00 - TITLE STATEMENT
Title A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of molecular diagnostics : JMD
Date of publication, distribution, etc. May 2008
300 ## - PHYSICAL DESCRIPTION
Extent 272-5 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fragile X Mental Retardation Protein
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fragile X Syndrome
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trinucleotide Repeats
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Forzano, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rinaldi, Rosanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cappellacci, Sandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grammatico, Paola
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Faravelli, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dagna Bricarelli, Franca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Maria, Emilio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grasso, Marina
773 0# - HOST ITEM ENTRY
Title The Journal of molecular diagnostics : JMD
Related parts vol. 10
-- no. 3
-- p. 272-5
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.2353/jmoldx.2008.070163">https://doi.org/10.2353/jmoldx.2008.070163</a>
Public note Available from publisher's website

No items available.