Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. (Record no. 15157744)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01711 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514204403.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200508s 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/jmg.2004.021121 |
| 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 | Yamamoto, K |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050804 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Oct 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 763-7 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 | Age of Onset |
| 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 |
| General subdivision | genetics |
| 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 | Histiocytosis, Non-Langerhans-Cell |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Introns |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Nerve Tissue Proteins |
| General subdivision | deficiency |
| 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 | T-Lymphocytes, Cytotoxic |
| General subdivision | immunology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ishii, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sako, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohga, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Furuno, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suzuki, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ueda, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Imayoshi, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamamoto, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morimoto, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takada, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hara, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Imashuku, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sasazuki, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yasukawa, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 41 |
| -- | no. 10 |
| -- | p. 763-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2004.021121">https://doi.org/10.1136/jmg.2004.021121</a> |
| Public note | Available from publisher's website |
No items available.