Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. (Record no. 14449689)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02744 a2200853 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514165427.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200403s 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.10310 |
| 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 | Kato, Mitsuhiro |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040308 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Feb 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 147-159 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Agenesis of Corpus Callosum |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Corpus Callosum |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 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 | Gene Expression Regulation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genitalia, Female |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genitalia, Male |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeodomain Proteins |
| General subdivision | biosynthesis |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphocytes |
| General subdivision | chemistry |
| 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 | Mutation |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sex Chromosome Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | biosynthesis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Das, Soma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petras, Kristin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitamura, Kunio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morohashi, Ken-Ichirou |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abuelo, Diane N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barr, Mason |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brady, Angela F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carpenter, Nancy J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cipero, Karen L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frisone, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fukuda, Takayuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, Renzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iida, Eri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Itoh, Masayuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewanda, Amy Feldman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nanba, Yukiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oka, Akira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Proud, Virginia K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saugier-Veber, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schelley, Susan L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaner, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silengo, Margherita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stewart, Fiona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sugiyama, Noriyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toyama, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vargas, Ana Lía |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yanazawa, Masako |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zackai, Elaine H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 23 |
| -- | no. 2 |
| -- | p. 147-159 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.10310">https://doi.org/10.1002/humu.10310</a> |
| Public note | Available from publisher's website |
No items available.