Compound heterozygous ASPM mutations in Pakistani MCPH families. (Record no. 18787796)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01421 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515164917.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200906s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.32749 |
| 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 | Muhammad, Farooq |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090618 |
| 245 00 - TITLE STATEMENT | |
| Title | Compound heterozygous ASPM mutations in Pakistani MCPH families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | May 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 926-30 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Microcephaly |
| General subdivision | genetics |
| 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 | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mahmood Baig, Shahid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hansen, Lars |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sajid Hussain, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anjum Inayat, Iram |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aslam, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anver Qureshi, Javed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toilat, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirst, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wajid, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nürnberg, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eiberg, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tommerup, Niels |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kjaer, Klaus W |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 149A |
| -- | no. 5 |
| -- | p. 926-30 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.32749">https://doi.org/10.1002/ajmg.a.32749</a> |
| Public note | Available from publisher's website |
No items available.