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

doi:10.1002/ajmg.a.35295

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

Kasturba Medical College, Manipal

Research output: Contribution to journal › Letter › peer-review

10 Citations (Scopus)

Original language	English
Pages (from-to)	1225-1228
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.35295
Publication status	Published - 05-2012

All Science Journal Classification (ASJC) codes

Genetics(clinical)
Genetics

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10.1002/ajmg.a.35295

Cite this

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title = "Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene",

author = "Coutinho, {Maria Francisca} and Santos, {Liliana da Silva} and Girisha, {Katta Mohan} and Kapaettu Satyamoorthy and L{\'u}cia Lacerda and Prata, {Maria Jo{\~a}o} and Sandra Alves",

year = "2012",

month = may,

doi = "10.1002/ajmg.a.35295",

language = "English",

volume = "158 A",

pages = "1225--1228",

journal = "American Journal of Medical Genetics, Part A",

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T1 - Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

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

PY - 2012/5

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U2 - 10.1002/ajmg.a.35295

DO - 10.1002/ajmg.a.35295

M3 - Letter

C2 - 22495880

AN - SCOPUS:84860010494

SN - 1552-4825

VL - 158 A

SP - 1225

EP - 1228

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 5

ER -

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

All Science Journal Classification (ASJC) codes

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