Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (Record no. 16182533)
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fixed length control field | 01515 a2200445 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250515021744.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 200606s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1098-1004 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1002/humu.20310 |
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 | Warthen, D M |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20060616 |
245 00 - TITLE STATEMENT | |
Title | Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Human mutation |
Date of publication, distribution, etc. | May 2006 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 436-43 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 | Alagille Syndrome |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Calcium-Binding Proteins |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cohort Studies |
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 | Genetic Testing |
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 | In Situ Hybridization, Fluorescence |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Intercellular Signaling Peptides and Proteins |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Jagged-1 Protein |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Membrane Proteins |
General subdivision | genetics |
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 | Polymorphism, Genetic |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Serrate-Jagged Proteins |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Moore, E C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kamath, B M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Morrissette, J J D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sanchez-Lara, P A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sanchez, P |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Piccoli, D A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Krantz, I D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Spinner, N B |
773 0# - HOST ITEM ENTRY | |
Title | Human mutation |
Related parts | vol. 27 |
-- | no. 5 |
-- | p. 436-43 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20310">https://doi.org/10.1002/humu.20310</a> |
Public note | Available from publisher's website |
No items available.