PAPSS2 mutations cause autosomal recessive brachyolmia

Journal of Medical Genetics

Volumn 49, Issue 8, 2012, Pages 533-538

  Miyake, Noriko ^a   Elcioglu, Nursel H ^b   Iida, Aritoshi ^c   Isguven, Pinar ^d   Dai, Jin ^c   Murakami, Nobuyuki ^e   Takamura, Kazuyuki ^f   Cho, Tae Joon ^g   Kim, Ok Hwa ^h   Hasegawa, Tomonobu ⁱ   Nagai, Toshiro ^e   Ohashi, Hirofumi ^j   Nishimura, Gen ^k   Matsumoto, Naomichi ^a   Ikegawa, Shiro ^c,l  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MARMARA UNIVERSITY   (Turkey)

^c RIKEN   (Japan)

^d Education and Agencies Hospital   (Turkey)

^e DOKKYO MEDICAL UNIVERSITY   (Japan)

^f FUKUOKA CHILDREN S HOSPITAL   (Japan)

^g Seoul National University Children's Hospital   (South Korea)

^h Ajou University Medical CentSuwon   (South Korea)

ⁱ KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^k TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^l Institute of Physical and Chemical Research   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BRACHYOLMIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; PAPSS 2 GENE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPINE DISEASE; TURKEY (REPUBLIC);

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MULTIENZYME COMPLEXES; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; SULFATE ADENYLYLTRANSFERASE; TRPV CATION CHANNELS; TURKEY;

EID: 84866330085     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101039     Document Type: Article

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