Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. (Record no. 16364665)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01531 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515031329.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200607s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0022-3476 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jpeds.2006.01.031 |
| 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 | Whyte, Michael P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060726 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of pediatrics |
| Date of publication, distribution, etc. | Jun 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 753-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Black or African American |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alkaline Phosphatase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arginine |
| General subdivision | genetics |
| 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 | Cysteine |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electrophoresis, Gel, Two-Dimensional |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Hypophosphatasia |
| General subdivision | epidemiology |
| 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 | Isoenzymes |
| General subdivision | genetics |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prevalence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Essmyer, Kevan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geimer, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mumm, Steven |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of pediatrics |
| Related parts | vol. 148 |
| -- | no. 6 |
| -- | p. 753-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jpeds.2006.01.031">https://doi.org/10.1016/j.jpeds.2006.01.031</a> |
| Public note | Available from publisher's website |
No items available.