Novel Mutation and Polymorphisms of the HMBS Gene Detected by Denaturing HPLC-Reference-Cited by-同舟云学术

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Novel Mutation and Polymorphisms of the HMBS Gene Detected by Denaturing HPLC

Published:2001-02-01 Issue:2 Volume:47 Page:343-346
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Lam Ching-Wan¹,Poon Priscilla Miu-Kuen¹,Tong Sui-Fan¹,Lo Anthony Wing-Ip²,Lai Chi-Kong²,Choi Kin-Lam³,Tiu Sau-Cheung³,Chan Yan-Wo²,Shek Chi-Chung⁴

Affiliation:

1. Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China

2. Department of Pathology, Princess Margaret Hospital, Hong Kong, China

3. Departments of Medicine and

4. Pathology, Queen Elizabeth Hospital, Hong Kong, China

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/47/2/343/32728234/clinchem0343.pdf

Reference27 articles.

1. Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-I-synthase activity

2. Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene

3. The human gene mutation database

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1. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11

2. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES);Journal of Laboratory Medicine;2021-11-04

3. Semi-supervised segmentation and genome annotation;2020-02-01

4. Role of genetic testing in the management of patients with inherited porphyria and their families;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2013-05

5. Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis;Clinica Chimica Acta;2011-01

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