A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. (Record no. 19551227)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01715 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515210547.0 |
| 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 | 1432-1076 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00431-010-1150-6 |
| 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 | Faiyaz-Ul-Haque, Muhammad |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100726 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of pediatrics |
| Date of publication, distribution, etc. | Jun 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 661-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Apoptosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arabs |
| General subdivision | genetics |
| 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 | Codon, Nonsense |
| 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 | Developmental Disabilities |
| General subdivision | ethnology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| General subdivision | ethnology |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Potential, Mitochondrial |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutropenia |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neutrophils |
| General subdivision | metabolism |
| 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 | Saudi Arabia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Jefri, Abdullah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Dayel, Fouad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhuiyan, Jalaluddin A K M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abalkhail, Hala A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Nounou, Randa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Abdullatif, Ahmed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pulicat, Monogaran S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gaafar, Ameera |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alaiya, Ayodele A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peltekova, Iskra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaidi, Syed H E |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of pediatrics |
| Related parts | vol. 169 |
| -- | no. 6 |
| -- | p. 661-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00431-010-1150-6">https://doi.org/10.1007/s00431-010-1150-6</a> |
| Public note | Available from publisher's website |
No items available.