نتایج جستجو برای: genotype phenotype correlation
تعداد نتایج: 615945 فیلتر نتایج به سال:
Journal:
:Fertility and Sterility
2019
Journal:
:Clinics
2012
Journal:
:Journal of Clinical Medicine
2021
Journal:
:Brain
2009
Journal:
:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
1995
Journal:
:Pediatric Rheumatology
2013
Journal:
:Journal of Medical Biochemistry
2018
Journal:
:Thorax
2005
Journal:
:Acta Ophthalmologica
2019
Journal:
:Journal of medical genetics
1993
S J Ramus
S M Forrest
D B Pitt
J A Saleeba
R G Cotton
We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype an...
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