Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (Record no. 12007357)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01440 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514040128.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200209s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0148-7299 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.10421 |
| 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 | Shears, Deborah J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020920 |
| 245 00 - TITLE STATEMENT | |
| Title | Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics |
| Date of publication, distribution, etc. | Jun 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 153-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | DNA |
| General subdivision | chemistry |
| 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 | Family Health |
| 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 | Genes, Dominant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeodomain Proteins |
| 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 | Male |
| 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 | Osteochondrodysplasias |
| 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 | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Short Stature Homeobox Protein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guillen-Navarro, Encarna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sempere-Miralles, Manuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Domingo-Jimenez, Rosario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scambler, Peter J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Winter, Robin M |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics |
| Related parts | vol. 110 |
| -- | no. 2 |
| -- | p. 153-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.10421">https://doi.org/10.1002/ajmg.10421</a> |
| Public note | Available from publisher's website |
No items available.