Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
about
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.DNA variation in a 5-Mb region of the X chromosome and estimates of sex-specific/type-specific mutation rates.Efficient detection of point mutations on color-coded strands of target DNA.Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypesThe identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation testIdentification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
P2860
Q24514984-769F3640-F523-49FE-9646-A128EB66E099Q33595110-A62BE721-E78A-4B78-8578-E476352EF4C5Q33682750-B4A3400F-4CDF-4654-90C0-4387AD59A762Q34388868-E44ACBD1-19CA-4DA3-8E0F-32EEBFA31D53Q35079578-6F8DCBC7-08D9-49AA-AD5E-4032889E94B2Q35644214-6EA838A7-8B3D-44E3-82F3-60AF639D19A5Q35644562-3DBBA9CB-4F7A-4773-815E-783107F53CF8Q35882767-D00EE236-F9C0-4EA0-BA11-785788BF2263
P2860
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Mutation detection in phenylke ...... th normal and patient samples.
@ast
Mutation detection in phenylke ...... th normal and patient samples.
@en
type
label
Mutation detection in phenylke ...... th normal and patient samples.
@ast
Mutation detection in phenylke ...... th normal and patient samples.
@en
prefLabel
Mutation detection in phenylke ...... th normal and patient samples.
@ast
Mutation detection in phenylke ...... th normal and patient samples.
@en
P2093
P2860
P1476
Mutation detection in phenylke ...... th normal and patient samples.
@en
P2093
P2860
P304
P407
P577
1991-07-01T00:00:00Z