A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia

Human Genetics

Volumn 102, Issue 2, 1998, Pages 187-191

  Van Belzen, Martine J ^a   Hiel, Johan A P ^a,b   Weemaes, Corry M R ^a   Gabreëls, Fons J M ^a   Van Engelen, Baziel G M ^a   Smeets, Dominique F C M ^a   Van den Heuvel, Lambert P W J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ST JOSEPH HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA FETOPROTEIN; ASPARTIC ACID; COMPLEMENTARY DNA; GLUTAMIC ACID; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; CANCER SUSCEPTIBILITY; CASE REPORT; CODON; CONTROLLED STUDY; FEMALE; GENETIC CONSERVATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOSENSITIVITY; SCHOOL CHILD;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0031954547     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050675     Document Type: Article

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