Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (Record no. 17487230)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01601 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515092724.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200802s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1434-5161 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10038-007-0211-9 |
| 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 | Uematsu, Mitsugu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080206 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of human genetics |
| Date of publication, distribution, etc. | 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1040-1043 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbon-Carbon Ligases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| 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 | Japan |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tandem Mass Spectrometry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakamoto, Osamu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sugawara, Noriko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kumagai, Naonori |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morimoto, Tetsuji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamaguchi, Seiji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hasegawa, Yuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kobayashi, Hironori |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ihara, Kenji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoshino, Makoto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Watanabe, Yoriko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inokuchi, Takahiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yokoyama, Takato |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kiwaki, Kohji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nakamura, Kimitoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Endo, Fumio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsuchiya, Shigeru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohura, Toshihiro |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of human genetics |
| Related parts | vol. 52 |
| -- | no. 12 |
| -- | p. 1040-1043 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10038-007-0211-9">https://doi.org/10.1007/s10038-007-0211-9</a> |
| Public note | Available from publisher's website |
No items available.