HUMAN MUTATION,volume 36,issue 6  (06-2015)

Period of time： 2015年6期

Publisher： John Wiley & Sons Inc

Founded in： 1992

Total resources： 41

E-ISSN： 1098-1004|36|6

ISSN： 1059-7794

Subject： Q Biological Sciences

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HUMAN MUTATION,volume 36,issue 6

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Contents

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. i-ii

John Wiley & Sons Inc

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Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. iii-iii

John Wiley & Sons Inc

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The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 573-580

John Wiley & Sons Inc

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amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α‐Mannosidosis

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 581-586

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Novel, Compound Heterozygous, Single‐Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 587-592

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DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 593-598

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Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 599-610

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Insights into Severe 5,10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 611-621

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Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 622-630

John Wiley & Sons Inc

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Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

HUMAN MUTATION,volume 36,issue 6 , Vol. 36, Iss. 6, 2015-06 , pp. 631-637

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