Identification of two mutations for ataxia telangiectasia among the Druze community

Prenatal Diagnosis

Volumn 24, Issue 5, 2004, Pages 358-362

  Fares, Fuad ^a   Ran, Sivan Axelord ^a   David, Miriam ^a   Zelnik, Nathanel ^a   Hecht, Yehudah ^a   Khairaldeen, Hasan ^a   Lerner, Aaron ^a  

^a CARMEL MEDICAL CENTER   (Israel)

Author keywords

Ataxia telangiectasia; Druze; Founder effect; Mutations

Indexed keywords

ATM PROTEIN; CYTOSINE; THYMIDINE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CANCER SUSCEPTIBILITY; CEREBELLAR ATAXIA; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; IONIZING RADIATION; ISRAEL; JORDAN; LEBANON; MAJOR CLINICAL STUDY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ATAXIA TELANGIECTASIA; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INFANT; ISRAEL; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 2642586735     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.874     Document Type: Article

References (15)

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