A Rare Combination of Compound Heterozygous Mutations in the
Iran
Phenylalanine hydroxylase
missense mutation
phenylketonuria
sequence analysis
Journal
Advanced biomedical research
ISSN: 2277-9175
Titre abrégé: Adv Biomed Res
Pays: India
ID NLM: 101586897
Informations de publication
Date de publication:
2024
2024
Historique:
received:
21
11
2023
revised:
28
02
2024
accepted:
02
03
2024
medline:
22
10
2024
pubmed:
22
10
2024
entrez:
22
10
2024
Statut:
epublish
Résumé
The We performed direct PCR sequencing for 13 exons of the All three patients exhibited rare compound heterozygosity rearrangements in the This study adds to the body of evidence establishing the association between
Sections du résumé
Background
UNASSIGNED
The
Materials and Methods
UNASSIGNED
We performed direct PCR sequencing for 13 exons of the
Results
UNASSIGNED
All three patients exhibited rare compound heterozygosity rearrangements in the
Conclusion
UNASSIGNED
This study adds to the body of evidence establishing the association between
Identifiants
pubmed: 39434944
doi: 10.4103/abr.abr_471_23
pii: ABR-13-64
pmc: PMC11493218
doi:
Types de publication
Journal Article
Langues
eng
Pagination
64Informations de copyright
Copyright: © 2024 Advanced Biomedical Research.
Déclaration de conflit d'intérêts
There are no conflicts of interest.