Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese

Amyloid

Volumn 14, Issue 4, 2007, Pages 293-297

  Mak, Chloe M ^a   Kwong, Yok Lam ^b   Lam, Ching Wan ^c   Chan, See Ching ^b   Lo, Chung Mau ^b   Fan, Sheung Tak ^b   Chang, Chee My ^d   Lau, Yuk Kwong ^d   Lok Sun, U ^e   Tam, Sidney ^a  

^a QUEEN MARY HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^d Tang Shiu Kin Hospital   (Hong Kong)

^e Estrada Do Visconde de Sao Januario   (Macao)

Author keywords

Familial transthyretin amyloidosis; Hong Kong Chinese; TTR gene

Indexed keywords

ALANINE; GLUTAMIC ACID; GLYCINE; LYSINE; PREALBUMIN; THREONINE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; CODON; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DISEASE ASSOCIATION; DNA DETERMINATION; ECHOCARDIOGRAPHY; FAMILIAL AMYLOIDOSIS; FAMILIAL TRANSTHYRETIN AMYLOIDOSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEART LEFT VENTRICLE EJECTION FRACTION; HONG KONG; HUMAN; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; MORBIDITY; MORTALITY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYLOIDOSIS, FAMILIAL; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; GLUTAMIC ACID; GLYCINE; HONG KONG; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PREALBUMIN;

EID: 35649001438     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120701616532     Document Type: Article

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