Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (Record no. 10399079)

MARC details
000 -LEADER
fixed length control field 01468 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513190826.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200001s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0964-6906
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/8.9.1757
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 Pilz, D T
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20000127
245 00 - TITLE STATEMENT
Title Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Sep 1999
300 ## - PHYSICAL DESCRIPTION
Extent 1757-60 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 1-Alkyl-2-acetylglycerophosphocholine Esterase
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision abnormalities
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 Doublecortin Domain Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Doublecortin Protein
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
General subdivision genetics
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Microtubule-Associated Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuropeptides
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuc, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matsumoto, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bodurtha, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bernadi, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tassinari, C A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dobyns, W B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ledbetter, D H
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 8
-- no. 9
-- p. 1757-60
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/8.9.1757">https://doi.org/10.1093/hmg/8.9.1757</a>
Public note Available from publisher's website

No items available.