(PDF) Two Missense Mutations in the Primary Autosomal

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly GeneMCPH1Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

Molecular Syndromology - Switzerland

doi 10.1159/000338975

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January 1, 2012

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S. Karger AG

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly GeneMCPH1Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

Molecular Syndromology - Switzerland

doi 10.1159/000338975

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Comprehensive Review on the Molecular Genetics of Autosomal Recessive Primary Microcephaly (MCPH)

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of McPh4 to Chromosome 15

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Functional Consequences of Tumorigenic Missense Mutations in the Amino-Terminal Domain of Smad4

Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34