The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. (Record no. 10442025)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01167 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513192406.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0006-4971 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | de Vries, E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19990907 |
| 245 00 - TITLE STATEMENT | |
| Title | The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Blood |
| Date of publication, distribution, etc. | Aug 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1488-90 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Comment; Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CD40 Ligand |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 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 | Hypergammaglobulinemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunoglobulin M |
| General subdivision | immunology |
| 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 | Membrane Glycoproteins |
| 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 | X Chromosome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noordzij, J G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davies, E G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartwig, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breuning, M H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Dongen, J J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Tol, M J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Blood |
| Related parts | vol. 94 |
| -- | no. 4 |
| -- | p. 1488-90 |
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