Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. (Record no. 15015718)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01599 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514195811.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200503s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4825 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.30149 |
| 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 | Macías-Gómez, Nelly Margarita |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050318 |
| 245 00 - TITLE STATEMENT | |
| Title | Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Aug 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 190-2 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anion Transport Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 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 | Foot Bones |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Transport Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mexico |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteochondrodysplasias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spine |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sulfate Transporters |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leal-Ugarte, Evelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-Rojas, Lisa Ximena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barros-Núñez, Patricio |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 129A |
| -- | no. 2 |
| -- | p. 190-2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.30149">https://doi.org/10.1002/ajmg.a.30149</a> |
| Public note | Available from publisher's website |
No items available.