A novel alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with barth syndrome

Harinder R. Singh, Zhao Yang, Saad Siddiqui, Liana S. Peña, Brandy H. Westerfield, Yuxin Fan, Jeffrey Towbin, Matteo Vatta

Research output: Contribution to journalLetter

10 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)1082-1085
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number5
DOIs
StatePublished - May 1 2009
Externally publishedYes

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X-Linked Genetic Diseases
Barth Syndrome
Alu Elements
Muscle Hypotonia
Muscle Proteins
Sequence Deletion
Deoxyribonuclease I
Left Ventricular Dysfunction
Lung Diseases
Seizures
Transcription Factors
Heart Failure
Newborn Infant

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

A novel alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with barth syndrome. / Singh, Harinder R.; Yang, Zhao; Siddiqui, Saad; Peña, Liana S.; Westerfield, Brandy H.; Fan, Yuxin; Towbin, Jeffrey; Vatta, Matteo.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 5, 01.05.2009, p. 1082-1085.

Research output: Contribution to journalLetter

Singh, Harinder R. ; Yang, Zhao ; Siddiqui, Saad ; Peña, Liana S. ; Westerfield, Brandy H. ; Fan, Yuxin ; Towbin, Jeffrey ; Vatta, Matteo. / A novel alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with barth syndrome. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 5. pp. 1082-1085.
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