Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. (Record no. 21171548)

MARC details
000 -LEADER
fixed length control field 01531 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516055024.0
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 1365-2265
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1365-2265.2011.04224.x
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 Tsubahara, Mayuko
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120622
245 00 - TITLE STATEMENT
Title Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical endocrinology
Date of publication, distribution, etc. Mar 2012
300 ## - PHYSICAL DESCRIPTION
Extent 420-4 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 Base Sequence
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 DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fathers
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 Human Growth Hormone
General subdivision deficiency
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mosaicism
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Siblings
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hayashi, Yoshitaka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Niijima, Shin-ichi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yamamoto, Michiyo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kamijo, Takashi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Murata, Yoshiharu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haruna, Hidenori
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Okumura, Akihisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shimizu, Toshiaki
773 0# - HOST ITEM ENTRY
Title Clinical endocrinology
Related parts vol. 76
-- no. 3
-- p. 420-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1365-2265.2011.04224.x">https://doi.org/10.1111/j.1365-2265.2011.04224.x</a>
Public note Available from publisher's website

No items available.