PAPSS2 mutations cause autosomal recessive brachyolmia. (Record no. 21941673)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01963 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516102243.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201212s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2012-101039 |
| 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 | Miyake, Noriko |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121228 |
| 245 00 - TITLE STATEMENT | |
| Title | PAPSS2 mutations cause autosomal recessive brachyolmia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Aug 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 533-8 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 | Asian People |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 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 | Exons |
| 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, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Loci |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Heterozygote |
| 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 | Multienzyme Complexes |
| 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 | Osteochondrodysplasias |
| General subdivision | diagnostic imaging |
| 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 | Radiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sulfate Adenylyltransferase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | TRPV Cation Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Turkey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elcioglu, Nursel H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iida, Aritoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isguven, Pinar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dai, Jin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murakami, Nobuyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takamura, Kazuyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cho, Tae-Joon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Ok-Hwa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hasegawa, Tomonobu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagai, Toshiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohashi, Hirofumi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishimura, Gen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, Naomichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ikegawa, Shiro |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 49 |
| -- | no. 8 |
| -- | p. 533-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2012-101039">https://doi.org/10.1136/jmedgenet-2012-101039</a> |
| Public note | Available from publisher's website |
No items available.