Ovarian failure in ataxia with oculomotor apraxia type 2

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1775-1777

  Lynch, David R ^a,b   Braastad, Corey D ^c   Nagan, Narasimhan ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c ATHENA DIAGNOSTICS INC   (United States)

Author keywords

Aprataxin; Helicase; Senetaxin

Indexed keywords

ADULT; APRAXIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; GENE; GENE MUTATION; HOMOZYGOTE; HUMAN; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY INSUFFICIENCY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SETX GENE;

ADULT; ALPHA-FETOPROTEINS; APRAXIA, IDEOMOTOR; DNA; FEMALE; HOMOZYGOTE; HUMANS; MUTATION; OVARIAN FAILURE, PREMATURE; RNA HELICASES;

EID: 34547660506     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31816     Document Type: Article

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