Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA. (Record no. 19556795)

MARC details
000 -LEADER
fixed length control field 01681 a2200517 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515210735.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201007s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2010.01.016
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 Bashyam, Murali D
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100708
245 00 - TITLE STATEMENT
Title Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. May 2010
300 ## - PHYSICAL DESCRIPTION
Extent 96-9 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
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 Female
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenylalanine Hydroxylase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenylketonurias
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chaudhary, Ajay K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reddy, E Chandrakanth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Devi, A Radha Rama
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Savithri, G R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ratheesh, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bashyam, Leena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mahesh, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sen, Dity
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Puri, Ratna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verma, Ishwar C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verma, Inder C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nampoothiri, Sheela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vaidyanathan, Sunitha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chandrashekar, Mataguru D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kantheti, Prameela
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 100
-- no. 1
-- p. 96-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2010.01.016">https://doi.org/10.1016/j.ymgme.2010.01.016</a>
Public note Available from publisher's website

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