(PDF) Tyrosine Hydroxylase Deficiency

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports - Germany

doi 10.1002/jmd2.12111

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Date

February 29, 2020

Authors

Sunita Bijarnia‐Mahay

Vivek Jain

Beat Thöny

Publisher

Wiley

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Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports - Germany

doi 10.1002/jmd2.12111

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

A Functional Intronic Variant in the Tyrosine Hydroxylase (TH) Gene Confers Risk of Essential Hypertension in the Northern Chinese Han Population

Tyrosine Hydroxylase and DOPA Decarboxylase Gene Variants in Personality Traits

17 Hydroxylase Deficiency in an Adolescent Girl

Deletion of the 21-Hydroxylase Gene in Congenital Adrenal Hyperplasia

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11β-Hydroxylase Deficiency

Amanote Research

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports - Germany

doi 10.1002/jmd2.12111

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

A Functional Intronic Variant in the Tyrosine Hydroxylase (TH) Gene Confers Risk of Essential Hypertension in the Northern Chinese Han Population

Tyrosine Hydroxylase and DOPA Decarboxylase Gene Variants in Personality Traits

17 Hydroxylase Deficiency in an Adolescent Girl

Deletion of the 21-Hydroxylase Gene in Congenital Adrenal Hyperplasia

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11&beta;-Hydroxylase Deficiency

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11β-Hydroxylase Deficiency