Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Maria Francisca Coutinho, Liliana da Silva Santos, Katta Mohan Girisha, Kapaettu Satyamoorthy, Lúcia Lacerda, Maria João Prata, Sandra Alves

Research output: Contribution to journalLetter

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)1225-1228
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number5
DOIs
Publication statusPublished - 05-2012

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Coutinho, Maria Francisca ; Santos, Liliana da Silva ; Girisha, Katta Mohan ; Satyamoorthy, Kapaettu ; Lacerda, Lúcia ; Prata, Maria João ; Alves, Sandra. / Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 5. pp. 1225-1228.
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Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene. / Coutinho, Maria Francisca; Santos, Liliana da Silva; Girisha, Katta Mohan; Satyamoorthy, Kapaettu; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 5, 05.2012, p. 1225-1228.

Research output: Contribution to journalLetter

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AU - Coutinho, Maria Francisca

AU - Santos, Liliana da Silva

AU - Girisha, Katta Mohan

AU - Satyamoorthy, Kapaettu

AU - Lacerda, Lúcia

AU - Prata, Maria João

AU - Alves, Sandra

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