Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

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Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

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Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

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Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

@en

Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

@nl

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Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

@en

Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

@nl

P1476

Mutation Analyses in Selected ...... s with Methylmalonic Acidemia.

@en

P2093

Bijo Varughese

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Chandrawati Kumari

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Seema Kapoor

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Siddarth Ramji

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Sunil Kumar Pollipali

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P2860

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

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning

How a protein binds B12: A 3.0 A X-ray structure of B12-binding domains of methionine synthase

A method and server for predicting damaging missense mutations

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

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

SIFT: Predicting amino acid changes that affect protein function

MutationTaster evaluates disease-causing potential of sequence alterations

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

P2888

s12291-016-0600-y

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266-274

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scholarly article

P356

10.1007/S12291-016-0600-Y

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P433

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P478

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P577

2016-08-04T00:00:00Z

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P698

28811685

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P921

India

P932

5538998

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