Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). (Record no. 7549688)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01182 a2200349 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513032042.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199511s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1059-7794 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.1380060111 |
| 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 | Tieu, P T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19951121 |
| 245 00 - TITLE STATEMENT | |
| Title | Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 1995 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 55-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
| 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 | Base Sequence |
| 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 | Female |
| 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 | Iduronidase |
| General subdivision | deficiency |
| 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 | Mucopolysaccharidosis I |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bach, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matynia, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hwang, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neufeld, E F |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 6 |
| -- | no. 1 |
| -- | p. 55-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.1380060111">https://doi.org/10.1002/humu.1380060111</a> |
| Public note | Available from publisher's website |
No items available.