A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. (Record no. 20180495)

MARC details
000 -LEADER
fixed length control field 01984 a2200589 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516002711.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201010s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2010.08.013
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 Riazuddin, S Amer
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20101028
245 00 - TITLE STATEMENT
Title A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Oct 2010
300 ## - PHYSICAL DESCRIPTION
Extent 523-31 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 15
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
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 Immunohistochemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element In Situ Hybridization
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mice
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 Night Blindness
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retina
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sodium-Calcium Exchanger
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shahzadi, Amber
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zeitz, Christina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ahmed, Zubair M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ayyagari, Radha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chavali, Venkata R M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ponferrada, Virgilio G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Audo, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Michiels, Christelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lancelot, Marie-Elise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nasir, Idrees A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zafar, Ahmad U
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khan, Shaheen N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Husnain, Tayyab
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jiao, Xiaodong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name MacDonald, Ian M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riazuddin, Sheikh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sieving, Paul A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Katsanis, Nicholas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hejtmancik, J Fielding
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 87
-- no. 4
-- p. 523-31
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2010.08.013">https://doi.org/10.1016/j.ajhg.2010.08.013</a>
Public note Available from publisher's website

No items available.