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^*

^*Corresponding author for this work

Kasturba Medical College, Manipal

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

12 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

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@article{f359789500e1411cb791115a8fdc7302,

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",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "5",

}

TY - JOUR

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

Y1 - 2012/5

UR - https://www.scopus.com/pages/publications/84860010494

UR - https://www.scopus.com/pages/publications/84860010494#tab=citedBy

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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