The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). (Record no. 19460487)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01467 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515203509.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201007s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7206 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ymgme.2009.12.016 |
| 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 | Iqbal, Furhan |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100708 |
| 245 00 - TITLE STATEMENT | |
| Title | The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | May 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 42-5 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 | Biotinidase |
| 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 | Chromatography, High Pressure Liquid |
| General subdivision | methods |
| 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 | Infant, Newborn |
| 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 | Protein Denaturation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sensitivity and Specificity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Item, Chike B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vilaseca, Maria A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jalan, Anil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mühl, Adolf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Couce, Maria L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duat, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delgado, Maria P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bosch, Joaquim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puche, Alberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campistol, Jaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pineda, Mercè |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bodamer, Olaf A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 100 |
| -- | no. 1 |
| -- | p. 42-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2009.12.016">https://doi.org/10.1016/j.ymgme.2009.12.016</a> |
| Public note | Available from publisher's website |
No items available.