Lillevali H, Ounap K, Metspalu A (1996) Phenylalanine hy- droxylase gene mutation R408W is present in 84% of Esto- nian phenylketonuria chromosomes. Eur J Hum Genet 4: 296-300Lilleva¨li, H., O˜ unap, K. & Metspalu, A. (1996) Phenylalanine hydroxylase gene mutation R408W is ...
Phenylalanine hydroxylase deficiency may be complete (classic PKU, type I) or partial(types II and III). Many mutations of the phenylalanine hydroxylase gene have been identified (missense, nonsense, insertions, deletions, and duplications) leading to PKU or non-PKU hyperphenylalaninemia. Sign in ...
Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disease ...
Phenylalanine hydroxylase deficiency may be complete (classic PKU, type I) or partial(types II and III). Many mutations of the phenylalanine hydroxylase gene have been identified (missense, nonsense, insertions, deletions, and duplications) leading to PKU or non-PKU hyperphenylalaninemia. Sign in ...
To study mutation in exon 7 of the gene for the phenylalanine hydroxylase(PAH), the mutations in exon 7 and flanking sequence of PAH gene were detected by SSCP analysis and DNA sequencing, in 147 unrelated Chinese children with phynelketonuria and their parents. Thirteen different mutations, ...
英文: Molecular Genetics of Phenylketonuria in Orientals-Linkage Disequilibrium between a Termination Mutation and Haplotype 4 of the Phenylalanine Hydroxylase Gene中文: 东方人苯丙酮尿症的分子遗传学—苯丙氨酸羟化酶基因中一终止突变与单体型4的连锁不平衡性 ...
We describe a mutation analysis for the phenylalanine hydroxylase gene and the clinical outcome of two Japanese patients with non-phenylketonuria (PKU) hyperphenylalaninemia (serum phenylalanine level below 600 渭mol/l under a free diet) detected by a mass-screening program. Single strand conformation...
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. ...
例句 释义: 全部,苯丙氨酸羟化酶 更多例句筛选 1. Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。 dictsearch.appspot.com隐私...
例句 释义: 全部,苯丙氨酸羟化酶,苯丙氨酸羟化酶基因 更多例句筛选 1. Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。 dictsearch.appspot.com©...