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Recent advances. Medical genetics.

Recent advances. Medical genetics.

http://www.wikidata.org/entity/Q36598199

about

Recent advances. Medical genetics.

http://www.wikidata.org/entity/Q36598199

description

1996 nî lūn-bûn

@nan

1996年の論文

@ja

1996年論文

@yue

1996年論文

@zh-hant

1996年論文

@zh-hk

1996年論文

@zh-mo

1996年論文

@zh-tw

1996年论文

@wuu

1996年论文

@zh

1996年论文

@zh-cn

name

Recent advances. Medical genetics.

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Recent advances. Medical genetics.

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type

label

Recent advances. Medical genetics.

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Recent advances. Medical genetics.

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prefLabel

Recent advances. Medical genetics.

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Recent advances. Medical genetics.

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Recent advances. Medical genetics.

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Yate JR

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Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

The Bloom's syndrome gene product is homologous to RecQ helicases

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1021-1025

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10.1136/BMJ.312.7037.1021

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medical genetics

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