(Q40352479)

19 September 2017

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype (English)

1 reference

19 September 2017

methylmalonic acidemia

1 reference

Lisa C Worgan

1

1 reference

19 September 2017

Kirsten Niles

2

1 reference

19 September 2017

Jamie C Tirone

3

1 reference

19 September 2017

Adam Hofmann

4

1 reference

19 September 2017

Andrei Verner

5

1 reference

19 September 2017

Alya'a Sammak

6

1 reference

19 September 2017

Terrence Kucic

7

1 reference

19 September 2017

Pierre Lepage

8

1 reference

19 September 2017

David S Rosenblatt

9

1 reference

19 September 2017

1 January 2006

1 reference

19 September 2017

1 reference

19 September 2017

27

1 reference

19 September 2017

1

1 reference

19 September 2017

31-43

1 reference

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

19 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

Consed: a graphical tool for sequence finishing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

A common mutation among blacks with mut- methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Novel mutations in a Thai patient with methylmalonic acidemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

The International HapMap Project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Mutation analysis of the MCM gene in Korean patients with MMA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

A high-resolution recombination map of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Crystal structure of substrate complexes of methylmalonyl-CoA mutase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

The Natural History of the Inherited Methylmalonic Acidemias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Structure of the human methylmalonyl-CoA mutase (MUT) locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20258

7 January 2021

Identifiers

DOI

10.1002/HUMU.20258

1 reference

19 September 2017

1 reference