Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation

British Journal of Dermatology

Volumn 143, Issue 1, 2000, Pages 174-179

  Maeda, T ^a   Sato, K ^a,e   Tanaka, T ^a,c   Minami, H ^b,d   Taguchi, T ^b,c   Mimaki, ^b,d   Yoshikawa, K ^c,d  

^a Department of Dermatology ^*  (Japan)

^b Central Laboratory for Research and Education And   (Japan)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

^e Kinki Central Hospital of Mutual Association of Public School Teachers   (Japan)

Author keywords

Chromosomal instability; Neurological abnormalities; Polymerase chain reaction; Restriction fragment length polymorphism

Indexed keywords

ANTICONVULSIVE AGENT; DNA;

ARTICLE; CASE REPORT; CHILD; CODON; GENE; HUMAN; HUMAN CELL; INTRON; MALE; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SURVIVAL; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

ADULT; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 10; FATAL OUTCOME; HUMANS; KARYOTYPING; MALE; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PHOTOSENSITIVITY DISORDERS; SKIN DISEASES; TRANSLOCATION, GENETIC; XERODERMA PIGMENTOSUM;

EID: 0033929616     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03611.x     Document Type: Article

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