Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (Record no. 16637942)

MARC details
000 -LEADER
fixed length control field 01560 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515044255.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200703s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1018-4813
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/sj.ejhg.5201719
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 Gimelli, Giorgio
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20070329
245 00 - TITLE STATEMENT
Title Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. Jan 2007
300 ## - PHYSICAL DESCRIPTION
Extent 76-80 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Genes, sry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gonadal Dysgenesis, 46,XY
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HMG-Box Domains
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 Models, Molecular
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Conformation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Secondary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sex-Determining Region Y Protein
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gimelli, Stefania
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dimasi, Nazzareno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bocciardi, Renata
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Battista, Eliana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pramparo, Tiziano
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuffardi, Orsetta
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 15
-- no. 1
-- p. 76-80
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/sj.ejhg.5201719">https://doi.org/10.1038/sj.ejhg.5201719</a>
Public note Available from publisher's website

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