Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. (Record no. 12447585)

MARC details
000 -LEADER
fixed length control field 01395 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514062802.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200305s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0307-6938
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1046/j.1365-2230.2003.01196.x
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 Djabali, K
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20030519
245 00 - TITLE STATEMENT
Title Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical and experimental dermatology
Date of publication, distribution, etc. Mar 2003
300 ## - PHYSICAL DESCRIPTION
Extent 206-10 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 Colombia
General subdivision ethnology
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 Glutamic Acid
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hair Diseases
General subdivision genetics
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 Keratins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lysine
General subdivision biosynthesis
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Russia
General subdivision ethnology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Panteleyev, A A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lalin, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garzon, M C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Longley, B J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bickers, D R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zlotogorski, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Christiano, A M
773 0# - HOST ITEM ENTRY
Title Clinical and experimental dermatology
Related parts vol. 28
-- no. 2
-- p. 206-10
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1046/j.1365-2230.2003.01196.x">https://doi.org/10.1046/j.1365-2230.2003.01196.x</a>
Public note Available from publisher's website

No items available.