Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. (Record no. 21479919)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02395 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516073857.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201206s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2011.12.004 |
| 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 | Baumann, Matthias |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120619 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 201-16 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acids |
| General subdivision | urine |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ehlers-Danlos Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoplasmic Reticulum |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extracellular Matrix |
| 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 | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss |
| General subdivision | genetics |
| 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 | Homozygote |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peptidylprolyl Isomerase |
| 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 | Protein Folding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | cis-trans-Isomerases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giunta, Cecilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krabichler, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rüschendorf, Franz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zoppi, Nicoletta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colombi, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bittner, Reginald E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quijano-Roy, Susana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muntoni, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cirak, Sebahattin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schreiber, Gudrun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zou, Yaqun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hu, Ying |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, Norma Beatriz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carlier, Robert Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amberger, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deutschmann, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Straub, Volker |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rohrbach, Marianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steinmann, Beat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rostásy, Kevin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karall, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bönnemann, Carsten G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zschocke, Johannes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fauth, Christine |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 90 |
| -- | no. 2 |
| -- | p. 201-16 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2011.12.004">https://doi.org/10.1016/j.ajhg.2011.12.004</a> |
| Public note | Available from publisher's website |
No items available.