مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
  • Cart
  • Lists
    Your lists Log in to create your own lists
  • Log in to your account
  • Your cookies
  • Search history
  • Advanced search
  • Authority search
  • Tag cloud
  • Library

Log in to your account

  1. Home
  2. Details for: Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Normal view MARC view ISBD view

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. [electronic resource]

By:
  • Knaus, Alexej
Contributor(s):
  • Awaya, Tomonari
  • Helbig, Ingo
  • Afawi, Zaid
  • Pendziwiat, Manuela
  • Abu-Rachma, Jubran
  • Thompson, Miles D
  • Cole, David E
  • Skinner, Steve
  • Annese, Fran
  • Canham, Natalie
  • Schweiger, Michal R
  • Robinson, Peter N
  • Mundlos, Stefan
  • Kinoshita, Taroh
  • Munnich, Arnold
  • Murakami, Yoshiko
  • Horn, Denise
  • Krawitz, Peter M
Producer: 20171215Description: 737-44 p. digitalISSN:
  • 1098-1004
Subject(s):
  • 3' Untranslated Regions
  • Abnormalities, Multiple -- genetics
  • Adolescent
  • Adult
  • Carboxylic Ester Hydrolases
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Intellectual Disability -- genetics
  • Introns
  • Male
  • Mutation, Missense
  • Pedigree
  • Phosphorus Metabolism Disorders -- genetics
  • Polymorphism, Single Nucleotide
  • RNA, Messenger -- genetics
  • Receptors, Cell Surface -- genetics
  • Sequence Analysis, DNA -- methods
  • Young Adult
Online resources:
  • Available from publisher's website
In: Human mutation vol. 37
Tags from this library: No tags from this library for this title. Log in to add tags.
Star ratings
    Cancel rating. Average rating: 0.0 (0 votes)
  • Holdings ( 0 )
  • Title notes ( 1 )
  • Comments ( 0 )
No physical items for this record

Publication Type: Journal Article

There are no comments on this title.

Log in to your account to post a comment.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

APA

Knaus A., Awaya T., Helbig I., Afawi Z., Pendziwiat M., Abu-Rachma J., Thompson M. D., Cole D. E., Skinner S., Annese F., Canham N., Schweiger M. R., Robinson P. N., Mundlos S., Kinoshita T., Munnich A., Murakami Y., Horn D. & Krawitz P. M. (20171215). Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. : Human mutation.

Chicago

Knaus Alexej, Awaya Tomonari, Helbig Ingo, Afawi Zaid, Pendziwiat Manuela, Abu-Rachma Jubran, Thompson Miles D, Cole David E, Skinner Steve, Annese Fran, Canham Natalie, Schweiger Michal R, Robinson Peter N, Mundlos Stefan, Kinoshita Taroh, Munnich Arnold, Murakami Yoshiko, Horn Denise and Krawitz Peter M. 20171215. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. : Human mutation.

Harvard

Knaus A., Awaya T., Helbig I., Afawi Z., Pendziwiat M., Abu-Rachma J., Thompson M. D., Cole D. E., Skinner S., Annese F., Canham N., Schweiger M. R., Robinson P. N., Mundlos S., Kinoshita T., Munnich A., Murakami Y., Horn D. and Krawitz P. M. (20171215). Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. : Human mutation.

MLA

Knaus Alexej, Awaya Tomonari, Helbig Ingo, Afawi Zaid, Pendziwiat Manuela, Abu-Rachma Jubran, Thompson Miles D, Cole David E, Skinner Steve, Annese Fran, Canham Natalie, Schweiger Michal R, Robinson Peter N, Mundlos Stefan, Kinoshita Taroh, Munnich Arnold, Murakami Yoshiko, Horn Denise and Krawitz Peter M. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. : Human mutation. 20171215.

  • Print
  • Cite
  • Add to your cart (remove)
  • Save record
    BIBTEX Dublin Core MARCXML MARC (non-Unicode/MARC-8) MARC (Unicode/UTF-8) MARC (Unicode/UTF-8, Standard) MODS (XML) RIS ISBD
  • More searches
    Search for this title in:
    Other Libraries (WorldCat) Other Databases (Google Scholar) Online Stores (Bookfinder.com) Open Library (openlibrary.org)

Exporting to Dublin Core...

Visit web site