Medical Journals

Topic: Amino Acid Sequence

Journal: American Journal of Human Genetics

Documents

A list of abstracts that contain a topic of "Amino Acid Sequence" and a journal name of "American Journal of Human Genetics".

Mutations in Tcf4, Encoding a Class I Basic Helix-loop-helix Transcription Factor, Are Responsible for Pitt-hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction.

PMID: 17436254
A Deleterious Mutation in Samd9 Causes Normophosphatemic Familial Tumoral Calcinosis.

PMID: 16960814
Conversion and Compensatory Evolution of the Gamma-crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human Crygd Gene to an Ancestral State.

PMID: 17564961
Mutations in Cabp4, the Gene Encoding the Ca2+-binding Protein 4, Cause Autosomal Recessive Night Blindness.

PMID: 16960802
Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure.

PMID: 17186461

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Medical Journals

Topic: Amino Acid Sequence

Journal: American Journal of Human Genetics

Documents

Mutations in Tcf4, Encoding a Class I Basic Helix-loop-helix Transcription Factor, Are Responsible for Pitt-hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction.

A Deleterious Mutation in Samd9 Causes Normophosphatemic Familial Tumoral Calcinosis.

Conversion and Compensatory Evolution of the Gamma-crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human Crygd Gene to an Ancestral State.

Mutations in Cabp4, the Gene Encoding the Ca2+-binding Protein 4, Cause Autosomal Recessive Night Blindness.

Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure.

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