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Publications by A C NICHOLLS

Homozygosity for a Splice Site Mutation of the COL1A2 Gene Yields a Non-Functional Proalpha2(I) Chain and an EDS/OI Clinical Phenotype

Journal of Medical Genetics

English

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A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

A Second Leaky Splice-Site Mutation in the Spastin Gene

American Journal of Human Genetics

English

A Functional Splice Site in the 5' Untranslated Region of a Zein Gene

Nucleic Acids Research

English

A Mutation Hotspot at the P14ARF Splice Site

Cancer Research

Molecular Biology

English

Functional Dissection of an Alternatively Spliced Herpesvirus Gene by Splice Site Mutagenesis

Journal of Virology

English

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

Multidisciplinary

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Corrigendum: Sarcoidosis Is Associated With a Truncating Splice Site Mutation in the Gene BTNL2

Nature Genetics

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A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene

European Journal of Human Genetics

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A Novel Splice Site Mutation in AP1S2 Gene for X-Linked Mental Retardation in a Chinese Pedigree and Literature Review

Brain and Behavior

Behavioral Neuroscience

English